Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.

ABSTRACT: Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history and will help to facilitate the development of new approaches for disease-gene discovery. Large-scale surveys of human genetic variation have reported signatures of recent explosive population growth, notable for an excess of rare genetic variants, suggesting that many mutations arose recently. To more quantitatively assess the distribution of mutation ages, we resequenced 15,336 genes in 6,515 individuals of European American and African American ancestry and inferred the age of 1,146,401 autosomal single nucleotide variants (SNVs). We estimate that approximately 73% of all protein-coding SNVs and approximately 86% of SNVs predicted to be deleteriou

SUBMITTER: Fu W 

PROVIDER: S-EPMC3676746 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature