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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...
Autores principales: | Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095512/ https://www.ncbi.nlm.nih.gov/pubmed/27796292 http://dx.doi.org/10.1038/ncomms13293 |
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