Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Accurate estimations of the frequency distribution of rare variants are needed to quantify the discovery power and guide large-scale human sequencing projects. This study describes an algorithm called UnseenEst to estimate the distribution of genetic variations using tens of thousands of exomes.

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Autores principales: James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Shamil Sunyaev, Mark Daly, Daniel G. MacArthur
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2016
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Acceso en línea:https://doaj.org/article/030ddc69bcf0485d89f5ce1d1a30988b
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