Dataset Information
Whole Exome Sequencing of healthy Spanish individuals
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001000938 | EGA |
REPOSITORIES: EGA
Publications
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
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]
