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Article

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

Scientific reports - 20 Jul 2017

Gamazon Eric R, Konkashbaev Anuar, Derks Eske M, Cox Nancy J, Lee Younghee

Abstract excerpt

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...

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Source

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Identifiers

PMID: 28729732
DOI: 10.1038/s41598-017-05744-9
PMCID: PMC5519721

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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