Ontology highlight
ABSTRACT:
SUBMITTER: Zou J
PROVIDER: S-EPMC5095512 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Zou James J Valiant Gregory G Valiant Paul P Karczewski Konrad K Chan Siu On SO Samocha Kaitlin K Lek Monkol M Sunyaev Shamil S Daly Mark M MacArthur Daniel G DG
Nature communications 20161031
As new proposals aim to sequence ever larger collection of humans, it is critical to have a quantitative framework to evaluate the statistical power of these projects. We developed a new algorithm, UnseenEst, and applied it to the exomes of 60,706 individuals to estimate the frequency distribution of all protein-coding variants, including rare variants that have not been observed yet in the current cohorts. Our results quantified the number of new variants that we expect to identify as sequencin ...[more]