Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.

ABSTRACT: We performed a whole-genome scan of genetic variants in splicing regulatory elements (SREs) and evaluated the extent to which natural selection has shaped extant patterns of variation in SREs. We investigated the degree of differentiation of single nucleotide polymorphisms (SNPs) in SREs among human populations and applied long-range haplotype- and multilocus allelic differentiation-based methods to detect selection signatures. We describe an approach, sampling a large number of loci across the genome from functional classes and using the consensus from multiple tests, for identifying candidates for selection signals. SRE SNPs in various SNP functional classes show different patterns of population differentiation compared with their non-SRE counterparts. Intronic regions display a greater

SUBMITTER: Gamazon ER 

PROVIDER: S-EPMC5519721 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature