This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Oncomine™ Tumor Mutation Load Assay is a targeted NGS assay that provides an assessment of tumor mutation load and mutation signatures in a simple workflow. The assay contains coverage of 1.65mb across 409 genes.
The Oncomine™ Tumor Mutation Load Assay is a targeted NGS assay that provides an assessment of tumor mutation load and mutation signatures in a simple workflow. The assay contains coverage of 1.65mb across 409 genes.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Oncomine™ Myeloid Research Assay is a comprehensive, targeted NGS assay designed to interrogates relevant DNA mutations and fusion transcripts associated with myeloid disorders in a quick and easy NGS run.
The Oncomine™ Myeloid Research Assay is a comprehensive, targeted NGS assay designed to interrogates relevant DNA mutations and fusion transcripts associated with myeloid disorders in a quick and easy NGS run. Our panel is comprised of 40 key DNA target genes and 29 driver genes in a broad fusion panel to cover all the major myeloid disorders: acute myeloid leukemia (AML), myeloid dysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myeloid leukemia (CML), chronic myelomonocytic leukemia (CMML), and juvenile myelomonocytic leukemia (JMML).
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Oncomine™ Focus Assay is a targeted, multi-biomarker assay that enables detection of target hotspots, SNVs, indels, CNVs, and gene fusions across 52 genes relevant to solid tumors from DNA and RNA in a single workflow.
The Oncomine™ Focus Assay is a targeted, multi-biomarker assay that enables detection of target hotspots, SNVs, indels, CNVs, and gene fusions across 52 genes relevant to solid tumors from DNA and RNA in a single workflow. The content driven by the Oncomine™ Knowledgebase, which includes content aligned to approved therapies and indications.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Oncomine™ Comprehensive Assay v3 is a targeted, multi-biomarker assay that enables the detection of relevant SNVs, indels, CNVs, gene fusions, and indels from 161 unique genes to help inform drug discovery research and clinical trial research programs.
The Oncomine™ Comprehensive Assay v3 is a targeted, multi-biomarker assay that enables the detection of relevant SNVs, indels, CNVs, gene fusions, and indels from 161 unique genes to help inform drug discovery research and clinical trial research programs. The assay includes kinase domain coverage to span the entire kinase domain in several critical receptor tyrosine kinases and representation of genes involved in DNA repair.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Oncomine™ BRCA Research Assay uniquely empowers laboratories to detect all classes of mutations ( SNVs, InDels, and large exon/gene deletions/duplications) in one NGS workflow, removing the need to employ multiple technologies.
The Oncomine™ BRCA Research Assay uniquely empowers laboratories to detect all classes of mutations ( SNVs, InDels, and large exon/gene deletions/duplications) in one NGS workflow, removing the need to employ multiple technologies. The assay is designed to provide sensitive and comprehensive sample amplification of all coding regions of the human BRCA1 and BRCA2 genes.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Oncomine™ TCR Beta SR – Assay is a robust, targeted next-generation sequencing (NGS) assay designed to accurately identify and measure the clonal expansion of tumor infiltrating lymphocytes (TILs) in formalin-fixed, paraffin-embedded (FFPE) samples.
The Oncomine™ TCR Beta SR – Assay is a robust, targeted next-generation sequencing (NGS) assay designed to accurately identify and measure the clonal expansion of tumor infiltrating lymphocytes (TILs) in formalin-fixed, paraffin-embedded (FFPE) samples. This assay identifies unique T cell clones through targeting the diverse complementary determining region 3 (CDR3) of the T cell receptor (TCR) gene locus in genomic DNA or RNA. The nucleotide sequence of the CDR3 region is unique to each T cell clone and codes for the part of the TCR beta chain that is involved in antigen recognition
Note: The amplicon count and number of pool are dummy values.
The Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
Environmental and biological sample monitoring is an important asset to understanding antibiotic treatment efficacy. The Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel is a quick, accurate and cost-effective tool to detect 28 different antibiotic classes. The panel contains 2 pools comprised of a total of 815 amplicons to assess the presence of 478 antimicrobial resistance genes. . The panel design has been developed in collaboration with a team from Lawrence Livermore National Laboratory, University of Chicago, Argonne National Laboratory, Los Alamos National Laboratory and Naval Research Laboratory.
Environmental and biological sample monitoring is an important asset to understanding antibiotic treatment efficacy. The Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel is a quick, accurate and cost-effective tool to detect 28 different antibiotic classes. The panel contains 2 pools comprised of a total of 815 amplicons to assess the presence of 478 antimicrobial resistance genes. . The panel design has been developed in collaboration with a team from Lawrence Livermore National Laboratory, University of Chicago, Argonne National Laboratory, Los Alamos National Laboratory and Naval Research Laboratory.
Design Date
June 2018
Publication:
Detection of antimicrobial resistance genes associated with
the International Space Station environmental surfaces
Author: C. Urbaniak, A. Checinska Sielaff, K. G. Frey, J. E. Allen3, N. Singh, C. Jaing, K. Wheeler & K. VenkateswaranAffiliation: Lawrence Livermore National Laboratories
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
Healthcare Acquired infections (HAIs) are one of the largest causes of mortality. The Ion AmpliSeq™ Pan-Bacterial Research Panel is a quick, accurate and cost-effective tool to detect bacterial organisms at genus and species level and detect with 31 different antibiotic classes. The panel contains 2 pools: the first containing 269 amplicons to detect 21 specific species and 716 amplicons to assess the presence of 364 antibiotic resistance (AMR) genes and the second containing 24 amplicons for 16S profiling of up to approximately 400,000 16S sequences in public Greengenes database.
Healthcare Acquired infections (HAIs) are one of the largest causes of mortality. The Ion AmpliSeq™ Pan-Bacterial Research Panel is a quick, accurate and cost-effective tool to detect bacterial organisms at genus and species level and detect with 31 different antibiotic classes. The panel contains 2 pools: the first containing 269 amplicons to detect 21 specific species and 716 amplicons to assess the presence of 364 antibiotic resistance (AMR) genes and the second containing 24 amplicons for 16S profiling of up to approximately 400,000 16S sequences in public Greengenes database. AMR content has been developed in Collaboration with Lawrence Livermore National Laboratories. To analyze the sequencing output from this panel, a Torrent Suite plugin under the name “PanBacterialAnalysis” is available on the ThermoFisher Scientific Plugin store.
Design Date
June 2018
Publication: None
Author: None
Affiliation: AMR content developed in conjunction with Lawrence Livermore National Laboratories
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
Microsatellite instability (MSI) is associated with hypermutability of short DNA sequence repeats and defects related to the mismatch repair (MMR) system. This has been observed in diverse cancer types. The panel contains a single primer pool that amplifies a total of 76 amplicons to assess the MSI status from FFPE DNA of human cancer tissue sections.
Microsatellite instability (MSI) is associated with hypermutability of short DNA sequence repeats and is related to defects in the mismatch repair (MMR) system. MSI has been observed in diverse cancer types – including, but not limited to colorectal, gastric and endometrial cancers. Research studies have shown MSI-High to be predictive of response to immunotherapy. The Ion AmpliSeq™ Microsatellite Instability Research Panel contains a single primer pool that amplifies a total of 76 amplicons to assess the MSI status from DNA from formalin-fixed paraffin embedded (FFPE) human cancer tissue sections. This panel is compatible with Ion AmpliSeq™ Kit 2.0 and Ion AmpliSeq™ Kit Plus User Guide Protocols. To analyze the sequencing output from this panel, a Torrent Suite plugin under the name “MSICall” is available on the Themo Fisher Scientific Plugin store.See panel README for more information. For Research Use Only. Not for use in diagnostic procedures.
Design Date
October 2018
Publication:Poster presented at the 68th Annual Meeting of The American Society of Human Genetics, October 17, 2018 in San Diego, California: Evaluation of Microsatellite Instability (MSI) using Ion Torrent Sequencing technology
Author: Sameh El-Difrawy
Affiliation: Thermo Fisher Scientific
Recommended Configuration
BC: IonXpress; IonCode
Samples per Chip:
160 per Ion 540 chip
40 per Ion 530 chip
10 per Ion 520 chip
Sample Type
gDNA or FFPE DNA
Number of sample in publication
NA
Observed Performance
Panel uniformity: not critical for panel performance
Reads on-targets: not critical for panel performance
Input DNA required
10ng per sample.
One reference normal DNA library per sequencing run – we recommend NA12878, NA24385 or CEPH Individual 1347-02 (Catalog Number 403062) .
Disease Research Area: Cancer Research
Ion AmpliSeq™ Methylation Panel for Cancer Research
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
This panel analyses clinically relevant targets for identification of specific methylation patterns within a DNA sample. The panel contains 40 amplicons (including 2 control amplicons) to detect methylation status of 38 targets including targets associated with colon cancer, prostate cancer, Leukemia, and lymphoma.
Ion AmpliSeq™ Methylation Panel for Cancer Research analyzes clinically relevant targets using the bisulfite method for identifying specific methylation patterns within a DNA or FFPE DNA sample. With low DNA input, the panel provides high accuracy, ease of use, and short time to answer. This Ion AmpliSeq™ Methylation Panel protocol combines a one day bisulfite kit protocol with the one day Ion AmpliSeq™ Library Kit Plus protocol to create (NGS) libraries for target DNA methylation assessment during sequencing. Consult the bisulfite methylation library construction protocol using the Ion AmpliSeq™ Library Kit Plus and the protocol using the Ion AmpliSeq™ Kit for Chef DL8 for detailed instructions. The panel contains one pool containing 40 amplicons (including 2 control amplicons) to detect methylation status of 38 targets including targets associated with colon cancer, prostate cancer, leukemia, and lymphoma as published in Bock et al. 2016. The DNA methylation targets, evaluated in this technology benchmarking study by the BLUEPRINT Consortium, are highly validated to be reproducible and reliable cancer biomarkers by multiple assays, and therefore this panel serves as a targeted DNA methylation cancer panel and a reliable technical as well as biological reference. To analyze the sequencing output from this panel, a Torrent Suite plugin under the name “methylation_analysis” is available on the Themo Fisher Scientific Plugin store. For research use only. Not for use in diagnostic procedures.
Design Date
March 2019
Publication: Quantitative comparison of DNA methylation assays for biomarker development and clinical applications. Nature Biotechnology 34, 726–737 (2016)
Author: Bock C, Halbritter F, Carmona FJ, Tierling S, Datlinger P, Assenov Y, Berdasco M, Bergmann AK, Booher K, Busato F, Campan M, Dahl C, Dahmcke CM, Diep D, Fernández AF, Gerhauser C, Haake A, Heilmann K, Holcomb T, Hussmann D, Ito M, Kläver R, Kreutz M, Kulis M, Lopez V, Nair SS, Paul DS, Plongthongkum N, Qu W, Queirós AC, Reinicke F, Sauter G, Schlomm T, Statham A, Stirzaker C, Strogantsev R, Urdinguio RG, Walter K, Weichenhan D, Weisenberger DJ, Beck S, Clark SJ, Esteller M, Ferguson-Smith AC, Fraga MF, Guldberg P, Hansen LL, Laird PW, Martín-Subero JI, Nygren AO, Peist R, Plass C, Shames DS, Siebert R, Sun X, Tost J, Walter J, Zhang K.
Affiliation: The BLUEPRINT consortium
Recommended Application
Identification of DNA methylation patterns for 38 clinically relevant DNA methylation markers (A subset of the targets in Publication) and determination of bisulfite conversion efficiency and workflow success.
Recommended Configuration
Sample per Chip: 16 per 530 chip for Chef ExT templating (15 samples + 1 NTC)
Sample Type
Genomic DNA or FFPE DNA (Bisulfite converted DNA required for library production)
*Duplicate control gDNA samples of average methylation state across all CpGs of approximately >98%, <5%, and an equal mixture of the two equaling ~52% methylation states were run with the panel listed above.
Disease Research Area: Cancer Research
Number of sample in Publication
N/A
Observed Performance*
Panel uniformity: not critical for panel performance (observed >80%)
Reads on-targets: not critical for panel performance (observed >84%)
Average mapped reads: ~250,000
Average mean depth: ~9,400
Input DNA required
Recommended 10 to100ng DNA per sample. For FFPE DNA, 20 to 100ng per sample is recommended.
10 ng used in the control study*
Description of the plugin: The methylation_analysis plugin performs alignment and methylation calling for amplicons on both the Watson (W) and Crick (C) strands. Each amplicon may have zero, one or more designated CpG targets (hotspots) of interest. A summary report shows each barcode name along with the sample name, the total number of reads covering the target CpGs, and the percentage of those reads that are methylated. In addition, for each barcode, text files are generated giving the number of methylated reads, unmethylated reads and percent methylation for each amplicon. There are separate text files for the designated target CpGs, all CpGs in the amplicon insert and all non CpG Cs in the amplicon insert. This plugin has been tested using the Ion AmpliSeq™ Methylation Panel for Cancer Research only. If you choose to use this plugin for any panel other than the Ion AmpliSeq™ Methylation Panel for Cancer Research you must validate it for your purposes. We can’t attest to the quality of the results with a custom panel. This product is labeled For research use only. Not for use in diagnostic procedures.
*Based on the data from the 6 control samples of commercially available human methylated & unmethylated DNA standard set. The DNA standards are purified from HCT116 DKO cells that contain genetic knockouts of DNA methyltransferases, DNMT1 (-/-) and DNMT3b (-/-) , and the unmethylated standard has less than 5% methylated DNA. The human methylated DNA standard has been methylated enzymatically at all CpG dinucleotides by M. SssI methyltransferase.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq HID Y-SNP Research Panel enables analyses of 859 Y-SNPs to infer 640 Y haplogroups. Preliminary forensic developmental validation testing revealed the performance of this Y-SNP MPS tool is highly accurate, is sensitive and robust.
Y-chromosomal haplogroups assigned from male-specific Y-chromosomal single nucleotide polymorphisms (Y-SNPs) allow paternal lineage identification and paternal bio-geographic ancestry inference, both being relevant in forensic genetics. The Ion AmpliSeq HID Y-SNP Research Panel enables analyses of 859 Y-SNPs to infer 640 Y haplogroups. Preliminary forensic developmental validation testing revealed that the performance of this Y-SNP MPS tool is highly accurate, sensitive and robust. For further details, including analysis recommendation, see Ralf et al, Forensic Science International: Genetics 2019
Design Date
Jan 2019
Publication: Ralf et al, Forensic Science International: Genetics 2019
Author: Manfred Kayser (m.kayser@erasmusmc.nl)
Affiliation: Erasmus MC University Medical Center
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ PhenoTrivium Panel contains ancestry, DNA phenotyping and male lineage markers for a total of 200 autosomal SNPs and 120 Y chromosomal SNPs in a single panel. Diepenbroek et al show that reliable ancestry and phenotype predictions can be obtained with the Ion AmpliSeq™ PhenoTrivium Panel down to 125 pg of genomic DNA (gDNA) and the added benefits of combining ancestry, phenotype and male lineage predictions on casework samples.
Growing research on the application of alternative markers in the field of forensic genetics has aided in identifying methods to obtain more genetic information from challenging samples. The use of biogeographical ancestry, DNA phenotyping and lineage markers can provide investigative leads in cold cases and cases where there are no suspects. The Ion AmpliSeq™ PhenoTrivium Panel contains ancestry, DNA phenotyping and male lineage markers for a total of 200 autosomal SNPs and 120 Y chromosomal SNPs in a single panel. Diepenbroek et al show that reliable ancestry and phenotype predictions can be obtained with the Ion AmpliSeq™ PhenoTrivium Panel down to 125 pg of genomic DNA (gDNA) and the added benefits of combining ancestry, phenotype and male lineage predictions on casework samples.
Design Date
December 2020
Publication:
Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples, Genes (2020). M. Diepenbroek, B. Bayer, K. Schwender, R. Schiller, J. Lim, R. Lagacé, K. Anslinger
Affiliation: Marta Diepenbroek (Marta.Diepenbroek@med.uni-muenchen.de)
References
Department of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich
Recommended ApplicationForensic Genetics: Bio-geographic ancestry inference, DNA Phenotyping, Investigative Leads
Recommended Configuration
Sample per Chip: 16-24 samples/530 Chip
Sample Type
Human genomic DNA, compatible with degraded DNA and forensic samples
Number of sample in publication
~178 Samples
Observed Performance
Marker Call Rate: 98.75%
Input DNA required
1 ng per sample but
reliable ancestry & phenotype predictions down to 125 pg of DNA
Disease Research Area: Forensics, Human Identification, Biogeographical Ancestry, DNA Phenotyping, Investigative Leads
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ MH-74 Plex Research Panel is a 157 – 325 bp assay covering 74 microhaplotypes (230 SNPs) selected from a set of 130 microhaplotypes previously characterized by the Kidd Laboratory.
The analysis of alternative marker types can complement CE-STR results for challenging samples, such as complex mixtures or degraded samples, to generate investigative leads. Microhaplotypes have arisen as an alternative marker to traditional STR-CE typing due to the additive enhanced mixture analysis and biogeographical ancestry prediction capabilities that favor its use for forensic samples. The Ion AmpliSeq™ MH-74 Plex Research Panel is a 157 – 325 bp assay covering 74 microhaplotypes (230 SNPs) selected from a set of 130 microhaplotypes previously characterized by the Kidd Laboratory1. Microhaplotypes were selected based on high Ae (effective number of alleles) and In (informativeness) values to enhance mixture deconvolution and biogeographic ancestry prediction capabilities. Oldoni et al demonstrate sensitivity down to 50 pg of genomic DNA (gDNA) and the utility of the assay in analyzing complex mixtures to complement CE-STR typing results
Design Date
December 2020
Publication:
A sequence-based 74plex microhaplotype assay for analysis of forensic DNA mixtures, Forensic Science International: Genetics (2020). F. Oldoni, D. Bader, C. Fantinato, S.C. Wootton, R. Lagacé, K.K. Kidd, D. Podini
Author: Daniele Podini (podini@gwu.edu), Kenneth K. Kidd (kenneth.kidd@yale.edu)
Affiliation: The George Washington University, Yale University School of Medicine
References
1K.K. Kidd, W.C. Speed, A.J. Pakstis, D.S. Podini, R. Lagace, J. Chang, S. Wootton, E. Haigh, U. Soundararajan, Evaluating 130 microhaplotypes across a global set of 83 populations, Forensic Sci. Int. Genet. 29 (2017) 29–37
Recommended ApplicationForensic Genetics: Bio-geographic ancestry inference, DNA Mixtures
Recommended Configuration
Sample per Chip: 16-24 samples/530 Chip
Sample Type
Human genomic DNA, compatible with degraded DNA and forensic samples
Number of sample in publication
~79 Samples
Observed Performance
Marker Call Rate: 100%
Input DNA required
1 ng per sample
Disease Research Area: Forensics, Human Identification, Biogeographical Ancestry
Ion AmpliSeq™ VISAGE (Visible Attributes through Genomics)-Basic Tool Research Panel
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ VISAGE-Basic tool research panel consists of 153 SNPs allowing for prediction of EVCs and biogeographical ancestry, incorporating 41 SNPs of the HIrisPlex-S assay1 and 115 BGA markers chosen for differentiation of seven continental populations. The assay design is beneficial for degraded samples with an average amplicon size of 175 bp
Forensic DNA phenotyping can provide investigative leads on externally visible characteristics (EVCs) and biogeographical ancestry (BGA) to assist investigators in investigations where there is no database hit or CE-STR analysis fails. The Ion AmpliSeq™ VISAGE-Basic tool research panel consists of 153 SNPs allowing for prediction of EVCs and biogeographical ancestry, incorporating 41 SNPs of the HIrisPlex-S assay1 and 115 BGA markers chosen for differentiation of seven continental populations. The assay design is beneficial for degraded samples with an average amplicon size of 175 bp. Preliminary validation of the assay shows high sensitivity with full profiles down to 100 pg of genomic DNA (gDNA) and 240 minutes of sonication.
Design Date
June 2020
Publication:
Development and Validation of the VISAGE AmpliSeq Basic Tool to Predict Appearance and Ancestry from DNA, Forensic Science International: Genetics (2020). C. Xavier, M. de la Puente, A. Mosquera-Miguel, A. Freire-Aradas, V. Kalamara, A. Vidaki, T. Gross, A. Revoir, E. Pospiech, E. Kartasinska, M. Spolnicka, W. Branicki, C. E. Ames, P. M. Schneider, C. Hohoff, M. Kayser, C. Phillips, W. Parson, on behalf of the VISAGE Consortium
Affiliation: VISAGE Consortium
References1Chaitanya, L. et al., The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation. Forensic Sci Int Genet, 2018. 35: p. 123- 135.
Recommended ApplicationForensic Genetics: Bio-geographic ancestry inference, DNA phenotyping
Recommended Configuration
Sample per Chip: 16 samples/530 Chip
Sample Type
Human genomic DNA, compatible with degraded DNA and forensic samples
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
Noonan syndrome is a relatively common autosomal dominant congenital disorder. The noonan Panel assesses 14 genes known to be related with this disorder: A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SPRED1. This panel contains 268 amplicons in 2 pools.
Noonan syndrome is a relatively common autosomal dominant congenital disorder with a high phenotypic variability. It is a clinically and genetically heterogeneous disorder that belongs to the group of Rasopathy diseases, caused by mutations in genes dysregulating the RAS/MAPK pathway.
The Noonan Research Gene Panel has been developed in collaboration with an European consortia composed by Marco Tartaglia(1), Jose Luis Costa (2), Kornelia Neveling and Marcel Nelen (3) . 1) Istituto Superiore di Sanità, Rome, Italy, 2) Ipatimup, Porto 3) Human Genetics, Radboud UMC Nijmegen .
The panel assesses 14 genes known to be related with this disorder. A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1. In a first study of 60 archived samples we showed that very high sensitivity and specificity are achievable. For further details see ASHG 2014 poster “Development and verification of a Noonan genes Ion AmpliSeq™ panel” M. Nelen et al.
Design Date
Publication: ASHG 2014 Poster "Development and verification of a Noonan genes Ion AmpliSeq™ panel" Author: Marcel Nelen (Marcel.Nelen@radboudumc.nl) Affiliation: Dept. of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands
Recommended Application
Germ line mutation detection
Recommended Configuration
Sample per Chip: 8 per 318 chip
Minimum coverage: 684
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The panel was developed as a quick, accurate and cost effective method to identify variants in genes associated with antimicrobial resistance in Mycobacterium tuberculosis (TB). The panel assesses 8 genes related to antimicrobial resistance (embB, eis, gyrA, inhA, katG, pncA, rpoB, rpsL). This panel uses 109 amplicons in 2 pools.
Tuberculosis (TB) remains one of the main infectious diseases affecting developing countries. According to WHO, globally in 2013 there were 9 million people who fell ill with TB. Furthermore, an estimated 480,000 people developed multidrug-resistant TB (MDR-TB), and there were an estimated 210,000 deaths from MDR-TB. The TB Research Panel has been developed in collaboration with leading public health institutes. The panel assesses 8 genes related to antimicrobial resistance (embB, eis, gyrA, inhA, katG, pncA, rpoB, rpsL). For further details see ASM 2015 poster “Strain-Typing and Antibiotic Resistance Profiling From Research Samples Using Highly Multiplexed Targeted Library Construction with High Throughput Semi-Conductor Based Sequencing” J. Bishop et al.
Design Date
Dec 2013
Publication: Bishop et al. Poster session presented at 115th General Meeting of the American Society for Microbiology; 2015 May 30- June 2; New Orleans, LA. (Poster link) Author: John Bishop (john.bishop@thermofisher.com) Affiliation: Ion Torrent, Thermo Fisher Scientific
Recommended Application
Identification of gene variants correlating with antimicrobial resistance in Mycobacterium tuberculosis
Recommended Configuration
Sample per Chip: 36 per 318 chip
Minimum coverage: 1000x
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
Ion AmpliSeq™ Pharmacogenomics Panel is a single pool of primers used to perform multiplex PCR for preparation of amplicons libraries from genomic “hot spot” regions that play critical role in DME genes.The panel is a part of sample to answer workflow designed for a next-generation sequencing (NGS) platform from Thermo Fisher Scientific, to interrogate SNP, indels and copy number variations (CNV) in the DME genes.
Ion AmpliSeq™ Pharmacogenomics Panel is a single pool of primers used to perform multiplex PCR for preparation of amplicons libraries from genomic “hot spot” regions that play critical role in DME genes.The panel is a part of sample to answer workflow designed for a next-generation sequencing (NGS) platform from Thermo Fisher Scientific, to interrogate SNP, indels and copy number variations (CNV) in the DME genes. The panel focuses on 136 well documented SNP and indel variants and captures CYP2D6 copy number variations at both the gene level and for exon 9 rearrangement enabling the screening of broad selection of haplotypes including *36. In addition, Ion AmpliSeq™ Pharmacogenomics Research Panel includes 9 specially designed primer pairs for sample Identification.
This panel provides the following benefits:
A targeted ready-to use panel with high value pharmacogenomics content
Panel customization flexibility to create a ‘design of choice’
Genotyping and copy number assay in a single workflow for fastest turnaround time
Exceptional performance on buccal swab samples with minimal sample input of only 10ng
High coverage and unbiased amplification offering outstanding accuracy, minimizing a need for sample reruns
Ready-to-use automation scripts availability for sequence-ready library construction
Sample multiplexing flexibility to run 8 or up to 96 samples in a single batch
Straightforward data analysis with Integrated analysis software solution
Sample mis-identification detection capability for QA and accurate sample reporting.
(NOTE: This panel is synthesized at 5X concentration.)
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
This Mendelian Disease (single gene disorders) panel was developed as a quick, accurate and cost-effective method to identify genetic mutations associated with inherited cardiovascular defects. The panel assesses 404 genes known to harbor mutations affecting cardiovascular functioning.
It can be difficult to identify specific genetic causes of cardiovascular diseases because of pleiotropy, locus heterogeneity and accessibility of gene tests. The panel was developed as a quick, accurate and cost-effective method to identify genetic mutations associated with inherited cardiovascular defects. The panel assesses 404 genes known to harbor mutations affecting cardiovascular functioning. In addition to targeting all coding regions, an additional 94 non-coding disease-causing loci are targeted, as well as special coverage of two repeat expansion regions, in genes DMPK and CACNA1A.
Design Date
December 2013
Avg Amplicon Length
254 bp
Insert Size
206 bp
Recommended Application
Germ line mutation detection
Recommended Configuration
Sample per Chip: 2 per 318 chip
Average coverage: 314x
Sample Type
Standard
Design Statistics
Number of genes in panel: 404
Average gene coverage: 99.4%
Non-coding hotspots: 94
Observed Performance
Uniformity of coverage: 90.1%
% reads on target: 97%
Positive predictive value: 99.5%
Input DNA required
10ng per tube
2 pool
20 ng total
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
This Mendelian Disease (single gene disorders) panel was developed as a quick, accurate and cost effective method to identify genetic mutations associated with inherited hematological disorders. The Hematology panel assesses 394 genes known to harbor mutations affecting cardiovascular functioning.
Research to identify a specific genetic cause of hematological disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of gene tests. The panel was developed as a quick, accurate and cost effective method to identify genetic mutations associated with inherited hematological disorders. The Hematology panel assesses 394 genes known to harbor mutations affecting the blood. In addition to targeting all coding regions, an additional 161 non-coding disease-causing loci are targeted.
Design Date
August 2013
Avg Amplicon Length
253 bp
Insert Size
205 bp
Recommended Application
Germ line mutation detection
Recommended Configuration
Sample per Chip: 2 per 318 chip
Average coverage: 445x
Sample Type
Standard
Design Statistics
Number of genes in panel: 394
Average gene coverage: 99.5%
Non-coding hotspots: 161
Observed Performance
Uniformity of coverage: 93.8%
% reads on target: 97%
Positive predictive value: 99.5%
Input DNA required
10ng per tube
2 pool
20 ng total
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
This Mendelian Disease (single gene disorders) panel was developed as a quick, accurate and cost effective method to identify genetic mutations associated with inherited neurological disorders. The panel assesses 751 genes known to harbor mutations affecting the functioning of the brain and nervous system.
Research to identify specific genetic causes of neurological disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of gene tests. This panel was developed as a quick, accurate and cost effective method to identify genetic mutations associated with inherited neurological disorders. The panel assesses 751 genes known to harbor mutations affecting the functioning of the brain and nervous system. In addition to targeting all coding regions, an additional 101 non-coding disease-causing loci are targeted, as well as 14 repeat-expansion regions in genes AFF2, AR, ATN1, ATXN7, ATXN8OS, ATXN3, CACNA1A, CSTB, DMPK, HTT, JPH3, PABPN1, PPP2R2B, TBP.
Design Date
December 2013
Avg Amplicon Length
254 bp
Insert Size
205 bp
Recommended Application
Germ line mutation detection
Recommended Configuration
Sample per Chip: 2 per 318 chip
Average coverage: 165x
Sample Type
Genomic DNA, including FFPE (mtDNA also tested)
Design Statistics
Number of genes in panel: 751
Average gene coverage: 99.4%
Non-coding hotspots: 107
Observed Performance
Uniformity of coverage: 91.9%
% reads on target: 97%
Positive predictive value: 99.9%
Input DNA required
10ng per tube
2 pool
20 ng total
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ophthalmic Research Panel (Mendelian disease panel affected by single gene disorders), was developed as a quick, accurate and cost-effective method to identify genetic mutations associated with inherited blindness or other impairments of vision. The panel assesses 316 genes known to harbor mutations causal of vision impairment.
It can be difficult to identify specific genetic causes of vision impairment because of pleiotropy, locus heterogeneity and accessibility of gene tests. The panel was developed as a quick, accurate and cost-effective method to identify genetic mutations associated with inherited blindness or other impairments of vision. The panel assesses 316 genes known to harbor mutations causal of vision impairment. In addition to targeting all coding regions, an additional 50 non-coding disease-causing loci are targeted, as well as special coverage of two repeat expansion regions, in genes CNBP and ATXN7.
Design Date
December 2013
Avg Amplicon Length
253 bp
Insert Size
205 bp
Recommended Application
Germ line mutation detection
Recommended Configuration
Sample per Chip: 2 per 318 chip
Average coverage: 406x
Sample Type
Standard
Design Statistics
Number of genes in panel: 316
Average gene coverage: 99.4%
Non-coding hotspots: 50
Observed Performance
Uniformity of coverage: 97.6%
% reads on target: 98%
Positive predictive value: 99.0%
Input DNA required
10ng per tube
2 pool
20 ng total
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Autism Research Panel provides a quick, accurate and cost effective way to identify genetic mutations in 236 genes associated with autism.
Research to identify specific genetic causes of autism is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Autism Research Panel was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Deafness Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with inherited deafness. The panel assesses 126 genes known to harbor mutations affecting the hearing function.
Research to identify specific genetic causes of hearing impairment is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Deafness Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Cardiac Arrhythmias and Cardiomyopathy Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with cardiac arrhythmias and cardiomyopathies. The panel assesses 92 genes known to harbor mutations affecting the functioning of the heart.
Research to identify specific genetic causes of heart disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Cardiac Arrhythmias and Cardiomyopathy Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Dermatology Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with inherited dermatological impairment. The panel assesses 222 genes known to harbor mutations affecting the skin.
Research to identify specific genetic causes of dermatological impairment is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Dermatology Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Dysmorphia-Dysplasia Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with inherited dysmorphia-dysplasia disorders. The panel assesses 519 genes known to harbor mutations causing dysmorphia or dysplasia.
Research to identify specific genetic causes of dysmorphia-dysplasia is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Dysmorphia-Dysplasia Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Endocrine Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with inherited endocrine disorders. The panel assesses 340 genes known to harbor mutations affecting the functions of the endocrine system.
Research to identify specific genetic causes of endocrine disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Endocrine Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Epilepsy Research Panel provides a quick, accurate and cost effective way to identify genetic mutations in 386 genes associated with epilepsy.
Research to identify specific genetic causes of epilepsy is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Epilepsy Research Panel was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Gastrointestinal Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with inherited gastrointestinal disorders. The panel assesses 194 genes known to harbor mutations affecting gastrointestinal functions.
Research to identify specific genetic causes of gastrointestinal disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Gastrointestinal Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
This file provides a list of the genes associated with each Fixed Panel and contains the following information (listed in COSMIC id order):
Gene symbol
Accession id
COSMIC id
CDS Mutation - Change occurred in the nucleotide sequence
AA Mutation - Change occurred in the peptide sequence as a result of the mutation
Strand (+/-)
Coordinates (hg19)
Amplicon id – Cancer Panel v2 amplicon id nomenclature has changed to represent a more informative reference to the information about the amplicon. The id is now in the format specifying Panel, Gene, and Number of the amplicon associated with the gene (e.g. CHP_KRAS_1).
Insert Sequence
Target URL – Links to the COSMIC curated mutations database.
Designed BED file
The designed BED files show the amplified regions of the panel. These files are used for data analysis with the Torrent Variant Caller Plug-In. (See Data Analysis section below)
HotSpot BED file
The HotSpot BED file specifies the regions of known mutations with allele specific information such as the (REF) reference, (OBS) observed, and (ANCHOR) anchor fields. The coordinate after the anchor base is used for matching of indels.*
Currently, these BED files are only currently available for analysis with the Cancer Panel v1, Cancer Panel v2, and the Comprehensive Cancer Panel. The Inherited Disease Panel does not have an associated HotSpot file as it is not cancer-research focused (and does not have COSMIC ids).
* Note: To avoid the issue of ambiguous right alignment of indel calling, hotspot BED files are left aligned for optimal performance when used with Torrent Variant Caller.
Data Analysis in Torrent Browser
To run data analysis in the Torrent Browser, first upload both the designed BED and hotspots BED files. In the case of the "Ion AmpliSeq™ Pan-Bacterial Research Panel" and the "Ion AmpliSeq™ Antimicrobial Resistance (AMR) Research Panel", the panel files cannot be directly imported into the the Torrent Browser using the upload function or by direct import of the files. Please use the appropriate plugin for analysis purposes.
For Torrent Suite Software 4.x and 5.x
Go to the Reference section (in the gear menu drop down list). In the left navigation tabs, click Target Regions, then click Add New Target Regions and upload your file.
For hotspots, in the left navigation tabs, click Hotspots, then click Add Hotspots and upload your file.
The plan.json file for the Ion AmpliSeq Exome Hi-Q panel has been improved to include updated parameters compatible with Torrent Suite 5.2. These new parameters seek to improve our variant calling performance when using the Hi-Q enzyme with the Ion AmpliSeq Exome panel on the P1 and 540 chips. As part of the update, 4 new parameter.json files have been added to the download zip file to support backwards compatibility with previous versions of Torrent Suite such as 4.6 and 5.0 in a modularized way.
For Torrent Suite Software 3.x
Go to the Reference section (in the gear menu drop down list), and click on hg19. Under the Available BED Files section, click the Upload BED files button. Check the box to indicate it is a HotSpot file.
Next
Once the BED files have been successfully uploaded to the Torrent Browser, these files appear in the drop-down menus when running the Torrent Variant Caller. Select the Ion AmpliSeq option in the Library Type:
Select your Target Regions and Hotspot Regions BED files from the drop-down menus:
* The designer currently only works for Human Reference Genome, hg19.
Summary:
The Ion AmpliSeq™ Inborn Errors of Metabolism Research Panel v2 provides a quick, accurate and cost effective way to identify genetic mutations associated with inherited metabolic disorders. The panel assesses 594 genes known to harbor mutations affecting metabolic function.
Research to identify specific genetic causes of metabolic disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Inborn Errors of Metabolism Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.
Number of amplicons
9,681
Avg Amplicon Length
254 bp
Insert Size
207 bp
Recommended Application
Germ line mutation detection
Compatible platforms
Ion S5™ System, Ion PGM™ System, Ion Proton™ System
Sample Type
Standard
Design Statistics
Number of genes in panel: 594
Average gene coverage: 99.2%
Observed Performance
Uniformity of amplicon coverage: 95.8%
% reads on target: 97%
Input DNA required
10 ng per pool
20 ng total
2 pools
Disease Research Area: Inherited Metabolic Disorders
