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

ABSTRACT: 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

SUBMITTER: Dopazo J 

PROVIDER: S-EPMC4839216 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature