DRAGEN Heme WGS Tumor Only Pipeline

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).

Figure 1. DRAGEN Heme WGS Tumor Only Workflow

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

Note Unsupported instruments can still be analyzed, but a warning will be generated.

Supported FLow Cells

  • NovaSeq 6000 or 6000Dx S4

  • NovaSeq X or NovaSeq X plus 10B, 25B

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