Authors
Joaquín Dopazo, Alicia Amadoz, Marta Bleda, Luz Garcia-Alonso, Alejandro Alemán, Francisco García-García, Juan A Rodriguez, Josephine T Daub, Gerard Muntané, Antonio Rueda, Alicia Vela-Boza, Francisco J López-Domingo, Javier P Florido, Pablo Arce, Macarena Ruiz-Ferrer, Cristina Méndez-Vidal, Todd E Arnold, Olivia Spleiss, Miguel Alvarez-Tejado, Arcadi Navarro, Shomi S Bhattacharya, Salud Borrego, Javier Santoyo-López, Guillermo Antinolo
Publication date
2016/5/1
Journal
Molecular biology and evolution
Volume
33
Issue
5
Pages
1205-1218
Publisher
Oxford University Press
Description
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 …
Total citations
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Scholar articles
J Dopazo, A Amadoz, M Bleda, L Garcia-Alonso… - Molecular biology and evolution, 2016