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

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 o...

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Publicat a:Nat Commun
Autors principals: Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5095512/
https://ncbi.nlm.nih.gov/pubmed/27796292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms13293
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