Ontology highlight
ABSTRACT:
SUBMITTER: Nelson MR
PROVIDER: S-EPMC4319976 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20120517 6090
Rare genetic variants contribute to complex disease risk; however, the abundance of rare variants in human populations remains unknown. We explored this spectrum of variation by sequencing 202 genes encoding drug targets in 14,002 individuals. We find rare variants are abundant (1 every 17 bases) and geographically localized, so that even with large sample sizes, rare variant catalogs will be largely incomplete. We used the observed patterns of variation to estimate population growth parameters, ...[more]