Article

Most disease gene variants show minimal population differentiation despite incomplete coverage

2026-01-05

Abstract excerpt

<h4>Background</h4> Underrepresentation of non-European populations in genomic databases creates challenges for ancestry-matched variant interpretation, particularly when population frequency data are incomplete. Current approaches either assume missing populations have reference allele fixation (naive zero-imputation) or restrict analyses to observed populations (missingness-aware), but the clinical impact of th...

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Literature Corpus work: 77d2f667-5762-5ec7-9631-cd305211b034
DOI: 10.64898/2026.01.02.697354

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