Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

ABSTRACT: Whole genome analysis in large samples from a single population is needed to provide adequate power to assess relative strengths of natural selection across different functional components of the genome. In this study, we analyzed next-generation sequencing data from 962 European Americans, and found that as expected approximately 60% of the top 1% of positive selection signals lie in intergenic regions, 33% in intronic regions, and slightly over 1% in coding regions. Several detailed functional annotation categories in intergenic regions showed statistically significant enrichment in positively selected loci when compared to the null distribution of the genomic span of ENCODE categories. There was a significant enrichment of purifying selection signals detected in enhancers, transcription

SUBMITTER: Yu F 

PROVIDER: S-EPMC4373932 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature