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MGP Spanish controls

ABSTRACT: Data Access Committee EGAC00001000222

PROVIDER: EGAC00001000222 | EGA |

REPOSITORIES: EGA

ACCESS DATA

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Publications

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

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

Molecular biology and evolution 20160113 5

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 found (almost one-third of the described variants). There were also relevant differ ...[more]

PMID: 26764160

Publication: 1/2

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