Ontology highlight
ABSTRACT:
SUBMITTER: Casals F
PROVIDER: S-EPMC3784517 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Casals Ferran F Hodgkinson Alan A Hussin Julie J Idaghdour Youssef Y Bruat Vanessa V de Maillard Thibault T Grenier Jean-Christophe JC Gbeha Elias E Hamdan Fadi F FF Girard Simon S Spinella Jean-François JF Larivière Mathieu M Saillour Virginie V Healy Jasmine J Fernández Isabel I Sinnett Daniel D Michaud Jacques L JL Rouleau Guy A GA Haddad Elie E Le Deist Françoise F Awadalla Philip P
PLoS genetics 20130926 9
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 of French-Canadian individuals, a founder population with a unique demographic histor ...[more]