Article

FIND: a software tool for identifying population-enriched pathogenic variants in gnomAD

2026-06-10

Abstract excerpt

Founder mutations are variants that arose in a single ancestor and became enriched in a descendant population through a bottleneck and endogamy. Identification of pathogenic founder mutations has facilitated efficient targeted screening. More broadly, even without confirmed founder status, identifying pathogenic variants that are enriched within specific populations reveals population-specific disease burden. Howe...

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Literature Corpus work: cf09407c-0f1c-557c-82f7-43e31e9a8431
DOI: 10.64898/2026.06.05.730273

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