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 am...

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Bibliographic Details
Main Authors: Eric R. Gamazon, Anuar Konkashbaev, Eske M. Derks, Nancy J. Cox, Younghee Lee
Format: Article
Language:English
Published: Nature Publishing Group 2017-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-05744-9