Article

AFQuery: a bitmap-indexed, capture-aware allele frequency engine for clinical genomics cohorts

2026-05-22

Abstract excerpt

<h4>Motivation</h4> Allele frequency (AF) is central to clinical variant classification under ACMG/AMP guidelines. Public reference databases offer broad ancestry coverage, but local ancestries, rare-disease enrichment, and institutional case distributions are often underrepresented, so cohort-derived AF is a valuable complement. Computing accurate AF from institutional cohorts is nonetheless error-prone: even su...

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Literature Corpus work: fcc12b43-07d8-5bb6-a2ed-abac90f8dd36
DOI: 10.64898/2026.05.15.26353174

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