Advanced Topics

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