Ontology highlight
ABSTRACT:
SUBMITTER: Tennessen JA
PROVIDER: S-EPMC3708544 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20120517 6090
As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding genes to an average median depth of 111× in 2440 individuals of European (n = 1351) and African (n = 1088) ancestry. We identified over 500,000 single-nucleotide variants (SNVs), the majority of which were rare (86% with a minor allele frequency less than 0.5%), previously unknown (82%), and population-specific (82%). On average, 2.3% of the 13,595 SNVs each pe ...[more]