Faculty of 1000 evaluation for Identifying recent adaptations in large-scale genomic data [dataset]

Emidio Capriotti, Malay Basu
2013 F1000 - Post-publication peer review of the biomedical literature   unpublished
While several hundred regions of the human genome harbor signals of positive natural selection, few of the relevant adaptive traits and variants have been elucidated. Using full-genome sequence variation from the 1000 Genomes Project (1000G) and the Composite of Multiple Signals (CMS) test, we investigated 412 candidate signals and leveraged functional annotation, protein structure modeling, epigenetics, and association studies to identify and extensively annotate candidate causal variants. The
more » ... resulting catalog provides a tractable list for experimental follow-up; it includes thirty-five high-scoring non-synonymous variants, fifty-nine variants associated with expression levels of a nearby coding gene or lincRNA, and numerous variants associated with
doi:10.3410/f.717982879.793472058 fatcat:v5gbokbudbgk7jxuywogtayr6y