Article
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Nature communications - 31 Oct 2016
Zou James, Valiant Gregory, Valiant Paul, Karczewski Konrad, Chan Siu On, Samocha Kaitlin, Lek Monkol, Sunyaev Shamil, Daly Mark, MacArthur Daniel G
Abstract excerpt
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...
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