Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.

doi:10.1371/journal.pgen.1003815

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Article

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.

PLoS genetics - 1 Jan 2013

Casals Ferran, Hodgkinson Alan, Hussin Julie, Idaghdour Youssef, Bruat Vanessa, de Maillard Thibault, Grenier Jean-Christophe, Grenier Jean-Cristophe, Gbeha Elias, Hamdan Fadi F, Girard Simon, Spinella Jean-François, Larivière Mathieu, Saillour Virginie, Healy Jasmine, Fernández Isabel, Sinnett Daniel, Michaud Jacques L, Rouleau Guy A, Haddad Elie, Le Deist Françoise, Awadalla Philip

Abstract excerpt

Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations. Rare variants are enriched for functional mutations and are expected to explain an important fraction of the genetic etiology of human disease, therefore having a potential medical interest. In this work, we analyze the whole-exome sequences...

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PMID: 24086152
DOI: 10.1371/journal.pgen.1003815
PMCID: PMC3784517

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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