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Scalable and comprehensive mosaic variant calling using DRAGEN

2026-02-04

Abstract excerpt

Detecting low variant allele fraction (VAF) mosaic variants without matching controls remains a major challenge in genomics, limited by technical noise, lack of benchmarks, and computational scalability. We present the DRAGEN mosaic caller, a hardware-accelerated approach identifying variants down to ∼1-2% VAF with low false-positive rates and hour-scale runtimes for mosaic SNV/indel detection from bulk sequencing...

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Identifiers and source

Literature Corpus work
e815b533-8150-5cf5-a92e-9dca5c072fbd
DOI
10.64898/2026.02.03.26345450
Open publication

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