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          • ROH Caller
          • B-Allele Frequency Output
          • Somatic Mode
          • Joint Analysis
          • De Novo Small Variant Filtering
          • Autogenerated MD5SUM for VCF Files
          • Force Genotyping
          • Machine Learning for Variant Calling
          • Evidence BAM
          • Mosaic Detection
          • VCF Imputation
          • Multi-Region Joint Detection
        • Copy Number Variant Calling
          • CNV Output
          • CNV with SV Support
          • Multisample CNV Calling
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          • De Novo Repeat Expansion Detection
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          • CYP2D6 Caller
          • CYP21A2 Caller
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          • HBA Caller
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          • Rh Caller
          • SMN Caller
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          • Structural Variant De Novo Quality Scoring
        • VNTR Calling
        • Filter Duplicate Variants
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          • Ploidy Estimator
          • Ploidy Caller
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          • Homologous Recombination Deficiency
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          • DRAGEN Fragmentomics
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          • Fractional (Raw Reads) Downsampling
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        • Star Allele Caller
        • High Coverage Analysis
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        • Population Haplotyping (Beta)
        • DUX4 Rearrangement Caller
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        • Splice Variant Caller
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  1. Product Guides
  2. DRAGEN v4.4
  3. Clinical Research Workflows

DRAGEN Heme WGS Tumor Only Pipeline

PreviousClinical Research WorkflowsNextQuick Start

Last updated 2 days ago

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Overview

DRAGEN Heme WGS Tumor Only Pipeline, henceforth referred as the Heme Pipeline, is a comprehensive and unbiased whole genome sequencing solution to replace conventional cytogenetic and panel sequencing approaches for detecting all types of mutation using a limited amount of DNA. It can be applied to detect clinically actionable mutations for cancer spanning a wide range of genomic events, e.g., structural variants (SV), Copy Number Alterations (CNA), small variants (SNV/insertion/deletion/delins) and internal tandem duplications (ITD) and DUX4 variants using Heme samples.

The Heme pipeline includes a DNA-only workflow designed to analyze whole genome sequencing data generated on supported instruments. It may be run as a local off-instrument solution installable on a DRAGEN server or accessible through the Illumina Connected Analytics (ICA) cloud environment. The Heme pipeline is for Research Use Only (RUO).

Features

  • Superb performance based on the DRAGEN BioIT platform Release 4.4.4

  • Supports starting the analysis from BCL, FASTQ, BAM or CRAM as inputs.

  • Flexible custom configurable options on top of well established DRAGEN recipes for Heme WGS analysis.

  • Available on local DRAGEN servers and Illumina Connected Analytics (ICA)

  • Seamless integration with Illumina Connected Insights (ICI) for tertiary interpretation

Supported Library Prep Kits (LPKs)

  • Illumina DNA PCR Free Prep Kit

  • Illumina DNA Prep Kit

  • Custom LPKs

Supported Sequencing Instruments

  • NovaSeq 6000 or 6000Dx in RUO mode

  • NovaSeq X or NovaSeq X plus

Figure 1. DRAGEN Heme WGS Tumor Only Workflow