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Article

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

American journal of human genetics - 5 Oct 2012

Chong Jessica X, Ouwenga Rebecca, Anderson Rebecca L, Waggoner Darrel J, Ober Carole

Abstract excerpt

The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screening for all autosomal-recessive (AR) mutations known to be present in members of a founder population and revealed...

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Identifiers

PMID: 22981120
DOI: 10.1016/j.ajhg.2012.08.007
PMCID: PMC3484657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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