Article

IUPAC Consensus References Improve Short-Read Variant Detection in Clinically Challenging Regions: A Stratified Benchmarking Study with BurdenBench

2026-08-18

Abstract excerpt

<h4>Motivation</h4> Reference bias depresses variant detection in low-mappability regions, segmental duplications and the major histocompatibility complex (MHC) — precisely the regions of greatest clinical relevance. Existing benchmarks rely on aggregate precision, recall and F1 metrics that obscure the absolute true-positive and false-positive counts that determine laboratory workload. No study has systematicall...

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Literature Corpus work: 02efabf2-ca4a-5327-a3ce-026411344952
DOI: 10.64898/2026.08.12.744558

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