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

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

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Autor: Dopazo, Joaquín
Amadoz, Alicia
Bleda, Marta
Garcia Alonso, Luz
Daub, Josephine T.
Antiñolo Gil, Guillermo
Bhattacharya, Shomi S.
Departamento: Universidad de Sevilla. Departamento de Cirugía
Fecha: 2016
Publicado en: Molecular Biology and Evolution, 33 (5), 1205-1218.
Tipo de documento: Artículo
Resumen: 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 differences in allelic frequencies in polymorphic variants, including ∼10,000 polymorphisms private to the Spanish population. The allelic frequencies of variants conferring susceptibility to complex diseases (including cancer, schizophrenia, Alzheimer disease, type 2 diabetes, and other pathologies) were overall similar to those of other populations. However, the trend is the opposite for variants linked to Mendelian and rare diseases (including several retinal degenerative dystrophies and cardiomyo...
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Cita: Dopazo, J., Amadoz, A., Bleda, M., Garcia Alonso, L., Daub, J.T. y Antiñolo Gil, G. (2016). 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. Molecular Biology and Evolution, 33 (5), 1205-1218.
Tamaño: 442.6Kb
Formato: PDF

URI: http://hdl.handle.net/11441/63711

DOI: 10.1093/molbev/msw005

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