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