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dc.creatorDopazo, Joaquínes
dc.creatorAmadoz, Aliciaes
dc.creatorBleda, Martaes
dc.creatorGarcia Alonso, Luzes
dc.creatorDaub, Josephine
dc.creatorAntiñolo Gil, Guillermoes
dc.creatorBhattacharya, Shomi
dc.identifier.citationDopazo, 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.
dc.identifier.issn1537-1719 (electrónico)es
dc.identifier.issn0737-4038 (impreso)es
dc.description.abstractRecent 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 cardiomyopathies) that show marked frequency differences between populations. Interestingly, a correspondence between differences in allelic frequencies and disease prevalence was found, highlighting the relevance of frequency differences in disease risk. These differences are also observed in variants that disrupt known drug binding sites, suggesting an important role for local variability in population-specific drug resistances or adverse effects. We have made the Spanish population variant server web page that contains population frequency information for the complete list of 170,888 variant positions we found publicly available (, We show that it if fundamental to determine population-specific variant frequencies to distinguish real disease associations from population-specific
dc.description.sponsorshipEspaña, MINECO BIO2014-57291-R BFU2012-38236es
dc.publisherOxford University Presses
dc.relation.ispartofMolecular Biology and Evolution, 33 (5), 1205-1218.
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.subjectPopulation variabilityes
dc.subjectExome sequencinges
dc.subjectDisease variantses
dc.subjectPharmacogenomic variantses
dc.title267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variationes
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Cirugíaes
dc.journaltitleMolecular Biology and Evolutiones
dc.contributor.funderMinisterio de Economía y Competitividad (MINECO). España

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Attribution-NonCommercial-NoDerivatives 4.0 Internacional
Except where otherwise noted, this item's license is described as: Attribution-NonCommercial-NoDerivatives 4.0 Internacional