Oncomine brca search assay target bed file download

study results, the Oncomine BRCA1/2 research assay panel is a highly accurate tool for analyzing variants with wide-ranging allelic fractions and for detecting copy

23 Oct 2019 The BRCA1/2 NGS testing was conducted for 262 HBOC patients. Scientific) and the Oncomine BRCA Research Assay (Thermo Fisher Scientific). single nucleotide variant (SNV) calling to generate a variant call format fi The Oncomine Tumor Mutation Load Assay is the only NGS solution available for use in clinical research laboratories that delivers a TMB assessment in one test workflow with other biomarkers. See short videos of key opinion leaders talking about their experience with the test and assessing tumor mutation burden in ~2.5 days.

23 Oct 2019 The BRCA1/2 NGS testing was conducted for 262 HBOC patients. Scientific) and the Oncomine BRCA Research Assay (Thermo Fisher Scientific). single nucleotide variant (SNV) calling to generate a variant call format fi

createDesign: Create a design for the files associated with the result of a download_dt_file: Downloads all files inside a data.table. downloadEncode: downloadEncode is used to download a serie of files or download_single_file: download_single_file Downloads a single file and checks if For Research Use Only. Not for use in diagnostic procedures. Specifications. Libraries: Targeted Sequencing Library. Product Line: Oncomine™. Sequencing   12 Oct 2016 New user guide for the Oncomine™ BRCA Research Assay with detailed instructions for Upload Target Regions and Hotspots BED files into Torrent Suite™ Software . . . . . . . . . . . Download results or generate a rep 13 Aug 2018 Library preparation was carried out using the Oncomine Assay™ (comprising the DNA Oncomine™ Focus Assay (Thermo Fisher Scientific) and  Oncomine™ Focus Assay · SVTYPE = "RNAExonVariant" or "Fusion" · FILTER = " PASS" · Is a targeted RNA exon variant.

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.

Assay, and Oncomine™ Breast cfDNA Research Assay v2. Provides instruction for library preparation, templating, sequencing, and data analysis of Oncomine™ Cell-Free Research Assay libraries. TRADEMARKS: All trademarks are the property of Thermo Fisher Scientific and its subsidiaries unless otherwise specified. ©2017 Thermo Fisher Scientific Note: You can search analyses from the Oncomine™ TCR Beta‑LR Assay and the Oncomine ™ BCR IGH‑LR Assay by analysis name, sample name, and project. You cannot search these analyses by barcode. In the Analyses tab, click Overview. In the Workflow list, select an immune repertoire analysis workflow to limit the list of results to immune repertoire analyses. You can further refine the list Search. Search. Diagnostic Services Pharma Services Data Services The Oncomine Dx Target Test is a next-gen sequencing assay designed to detect variants in 23 genes associated with non-small cell lung cancer (NSCLC). Abnormalities targeted are ROS1 gene fusions and 367 sequence variant "hotspot" mutations in the following genes: AKT1, ALK, BRAF, CDK4, DDR2, EGFR, ERBB2, ERBB3, FGFR2, FGFR3 13/08/2018 If the reported MAPD value is above the selected MAPD filter value, no CNVs are displayed in the BRCA Report. Click IRGV Export & Preferences to open the visualization in IGV, export the whole genome view or the IRGV tracks to a PNG file, or show IRGV preferences. Oncomine BRCA Research Assay designed BED file … This filter is the default filter for most Oncomine™ assays. It presents the user with Oncomine™ driver variants that are based on their Oncomine™ Gene Class and Oncomine™ Variant Class annotations. It can be added to filter chains in the software to detect Oncomine™-annotated variants in specific Oncomine™ panels.. Analysis workflows for Oncomine™ assays and analysis workflow

For multi-pool RNA pools, you can specify the minimum number of pools in a Sample that are required to pass QC to qualify the Sample as Valid, then proceed with the Analysis.

01/01/2019 cBioPortal for Cancer Genomics Oncomine™ Colon cfDNA Assay Oncomine (fragments) containing target. We use the term 0.1% LOD to mean we have data to support specific sensitivity and specificity claims (90% and 98%) at the 0.1% allelic frequency. By default, our analysis tool uses minimum alternative allele frequency threshold of 0.05% and we have a technical lower limit of detection of 0.03% for this method. Observed 22/02/2021 New Oncomine products enable immune response analysis of the tumor microenvironment, interrogation of BRCA 1-2 genes, and liquid biopsy research using cell-free DNA from breast and colon cancer samples. For multi-pool RNA pools, you can specify the minimum number of pools in a Sample that are required to pass QC to qualify the Sample as Valid, then proceed with the Analysis.

The Oncomine™ BRCA Research Assay (Cat. No. A32840) is a bundle of the Oncomine™ BRCA Research Assay Manual Library Preparation panel and the Ion AmpliSeq™ Library Kit Plus, sufficient for manually preparing 24 libraries. Component Amount Storage Oncomine™ BRCA Research Assay Manual Library Preparation, 5X concentration (Part No. A32842) The Oncomine BRCA Research Assay was evaluated by 22 laboratories during an early-access program. Download a poster from the 2016 European Congress of Pathology with data from this evaluation › The Oncomine BRCA Research Assay enables robust performance and reliable, rapid and consistent high-quality results from every sample. The Oncomine BRCA Research Assay consists of two pools of AmpliSeq oligonucleotide primers and associated reagents to generate amplicon libraries for next-generation sequencing (NGS) on Ion Torrent platforms. The assay is designed to provide sensitive and comprehensive sample amplification of all co The Oncomine BRCA Research Assay covers 100% of the coding sequences of BRCA1/2, including all splice and acceptor sites, with an average extension of 63 bp into adjoining introns. The assay leverages Ion AmpliSeq multiplex PCR technology and is optimized for detection of low-frequency variants from compromised FFPE samples. The Oncomine Tumor Mutation Load Assay is the only NGS solution available for use in clinical research laboratories that delivers a TMB assessment in one test workflow with other biomarkers. See short videos of key opinion leaders talking about their experience with the test and assessing tumor mutation burden in ~2.5 days. The Oncomine Dx Target Test is a next-gen sequencing assay designed to detect variants in 23 genes associated with non-small cell lung cancer (NSCLC).

LIMITATIONS OF THE ASSAY 1. The Oncomine mutation panel is designed to detect mutations in targeted regions/genes only as detailed in the table above. Pathogenic mutations outside the targeted regions/genes will not be detected. 2. The limit of detection is 5% variant allele frequency (VAF) at 400X coverage and 3% VAF at 1,000X coverage. Oncomine™ Tumor Mutation Load Assay – Manual Library Preparation primer panel (Part No. A37907, 24 reactions) Oncomine™ Tumor Mutation Load Assay (2X) (blue cap) (pool 1 of 2) 120 µL –30ºC to –10ºC Oncomine™ Tumor Mutation Load Assay (2X) (blue cap) (pool 2 of 2) 120 µL Ion AmpliSeq™ Library Kit Plus (Part No. 4488990) We understand that one assay does not fit all needs. Ion Torrent™ Oncomine™ solutions offer you a spectrum of assays from a small, specialized two-gene assay for BRCA to a large, 500+ gene assay for multibiomarker profiling across multiple cancer types. With Oncomine solutions, you can choose the best solution for your Using parameters in the Oncomine™ Dx Target Test Assay Definition File, Torrent Suite ™ Dx Software manages the complete end-to-end workflow from sample preparation to test results. Before you manually define a sample, upload BAM or VCF data files into Ion Reporter™ Software, or use the demonstration data files available in Ion Reporter™ Software. For more information, see Upload a BAM file to create a sample or samples , Define samples with a CSV file , and Demonstration samples . The AmpliSeq for Illumina Focus Panel is a targeted resequencing assay for biomarker analysis of 52 genes with known relevance to solid tumors. Using the Focus Panel, researchers can analyze both DNA and RNA concurrently. Key features include: Relevant Gene Content. Target biomarkers across 52 genes relevant to solid tumors; Fast, Streamlined

The Oncomine™ BRCA Research Assay (Cat. No. A32840) is a bundle of the Oncomine™ BRCA Research Assay Manual Library Preparation panel and the Ion AmpliSeq™ Library Kit Plus, sufficient for manually preparing 24 libraries. Component Amount Storage Oncomine™ BRCA Research Assay Manual Library Preparation, 5X concentration (Part No. A32842)

The Oncomine Dx Target Test is a next-gen sequencing assay designed to detect variants in 23 genes associated with non-small cell lung cancer (NSCLC). The Oncomine Tumor Mutation Load Assay is the only NGS solution available for use in clinical research laboratories that delivers a TMB assessment in one test workflow with other biomarkers. See short videos of key opinion leaders talking about their experience with the test and assessing tumor mutation burden in ~2.5 days. instruction to create panel-specific analysis workflows for custom Oncomine™ tumor specific panels. B.0 16 January 2020 Updated for product launch to include all 10 DNA Oncomine™ tumor specific panels. • Oncomine™ Bladder • Oncomine™ BRCA Expanded • Oncomine™ Colorectal and Pancreatic • Oncomine™ Gastric and Esophageal The Oncomine™ Dx Target Test is an in vitro diagnostic test that provides primer panels, assay controls and interpretative software [an Assay Definition File (ADF)] designed for use with the Ion Torrent PGM Dx System and the Ion Torrent PGM Dx Reagents for If the reported MAPD value is above the selected MAPD filter value, no CNVs are displayed in the BRCA Report. Click IRGV Export & Preferences to open the visualization in IGV, export the whole genome view or the IRGV tracks to a PNG file, or show IRGV preferences. Oncomine BRCA Research Assay designed BED file alignment.