267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

doi:10.1093/molbev/msw005

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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

Molecular biology and evolution - 1 May 2016

Dopazo Joaquín, Amadoz Alicia, Bleda Marta, Garcia-Alonso Luz, Alemán Alejandro, García-García Francisco, Rodriguez Juan A, Daub Josephine T, Muntané Gerard, Rueda Antonio, Vela-Boza Alicia, López-Domingo Francisco J, Florido Javier P, Arce Pablo, Ruiz-Ferrer Macarena, Méndez-Vidal Cristina, Arnold Todd E, Spleiss Olivia, Alvarez-Tejado Miguel, Navarro Arcadi, Bhattacharya Shomi S, Borrego Salud, Santoyo-López Javier, Antiñolo Guillermo

Abstract excerpt

Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local variability motivated the whole-exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. Like in other studies, a considerable number of rare variants were...

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PMID: 26764160
DOI: 10.1093/molbev/msw005
PMCID: PMC4839216

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