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Título

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

AutorCasals, Ferran ; Awadalla, Philip
Fecha de publicaciónnov-2013
Citación4th Meeting of the Spanish Society for Evolutionary Biology (2013)
ResumenWhole-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 popula- tions. 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 of French-Cana- dian individuals, a founder population with a unique demographic history that includes an original population bottleneck less than 20 generations ago, followed by a demo- graphic explosion, and the whole exomes of French individuals sampled from France. We show that in less than 20 generations of genetic isolation from the French popu- lation, the genetic pool of French-Canadians shows reduced levels of diversity, higher homozygosity, and an excess of rare variants with low variant sharing with Europeans. Furthermore, the French-Canadian population contains a larger proportion of putatively damaging functional variants, which could partially explain the increased incidence of genetic disease in the province. Our results highlight the impact of population demo- graphy on genetic fitness and the contribution of rare variants to the human genetic variation landscape, emphasizing the need for deep cataloguing of genetic variants by resequencing worldwide human populations in order to truly assess disease risk.
DescripciónCasals, Ferran et al.-- Trabajo presentado en la 4th Meeting of the Spanish Society of the Evolutionary Biology (SESBE 2013) celebrada en Barcelona del 27 al 29 de noviembre de 2013.
URIhttp://hdl.handle.net/10261/153406
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