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Article

The burden of pathogenic variants in clinically actionable genes in a founder population.

American journal of medical genetics. Part A - 1 Nov 2021

Lynch Megan T, Maloney Kristin A, Pollin Toni I, Streeten Elizabeth A, Xu Huichun, Shuldiner Alan R, Van Hout Cristopher V, Gonzaga-Jauregui Claudia, Mitchell Braxton D

Abstract excerpt

Founder populations may be enriched with certain genetic variants of high clinical impact compared to nonfounder populations due to bottleneck events and genetic drift. Using exome sequencing (ES), we quantified the load of pathogenic variants that may be clinically actionable in 6136 apparently healthy adults living in the Lancaster, PA Old Order Amish settlement. We focused on variants in 78 genes deemed...

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PMID: 34467620
DOI: 10.1002/ajmg.a.62472

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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