DRAGEN Germline Accuracy

This section contains comprehensive accuracy metrics for DRAGEN's germline variant calling.

Available components

• Standard SBS

  • Small Variants — SNPs and indels detection accuracy across HG001-HG007 samples

  • Multi-Region Joint Detection — MRJD performance in high-homology paralogous regions

  • Copy Number Variation — CNV calling performance metrics

  • HLA Genotyping — HLA Class I and II genotyping accuracy

  • Targeted Callers — Performance for specialized variant callers

  • Ploidy Estimator — Ploidy estimation accuracy

  • Structural Variants — SV and MEI detection metrics

  • Tandem Repeats — STR expansion detection and classification accuracy

• TruPath

  • Small Variants — HMW and SMW small-variant accuracy from weekly Anaconda runs

  • Copy Number Variation — TruPath CNV accuracy from the generic Anaconda metrics config

  • Structural Variants — TruPath HMW and SMW SV accuracy from Truvari metrics

  • Tandem Repeats — TruPath STR refine-regions and swimplot summaries

  • Multi-Region Joint Detection — MRJD concordance across paralogous regions in the TruPath cohort

• Illumina 5-base

  • Small Variants — SNPs and indels detection accuracy for 5-base assay

  • Copy Number Variation — CNV calling performance metrics

  • Methylation — DNA methylation detection accuracy

Reference

DRAGEN Version: 4.5.4 | Reference Genome: GRCh38