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Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift can result in higher frequencies of variants that a...

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Detalles Bibliográficos
Autores principales: Halachev, Mihail, Meynert, Alison, Taylor, Martin S., Vitart, Veronique, Kerr, Shona M., Klaric, Lucija, Aitman, Timothy J., Haley, Chris S., Prendergast, James G., Pugh, Carys, Hume, David A., Harris, Sarah E., Liewald, David C., Deary, Ian J., Semple, Colin A., Wilson, James F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901239/
https://www.ncbi.nlm.nih.gov/pubmed/31765389
http://dx.doi.org/10.1371/journal.pgen.1008480