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

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...

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Detalles Bibliográficos
Autores principales: Gamazon, Eric R., Konkashbaev, Anuar, Derks, Eske M., Cox, Nancy J., Lee, Younghee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5519721/
https://www.ncbi.nlm.nih.gov/pubmed/28729732
http://dx.doi.org/10.1038/s41598-017-05744-9