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...
Main Authors: | Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, MacArthur, Daniel G., Sunyaev, Shamil R., Daly, Mark J. |
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Other Authors: | Massachusetts Institute of Technology. Institute for Medical Engineering & Science |
Format: | Article |
Language: | en_US |
Published: |
Nature Publishing Group
2017
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Online Access: | http://hdl.handle.net/1721.1/109155 |
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