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

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...

Full description

Bibliographic Details
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.
Other Authors: Massachusetts Institute of Technology. Institute for Medical Engineering & Science
Format: Article
Language:en_US
Published: Nature Publishing Group 2017
Online Access:http://hdl.handle.net/1721.1/109155

Internet

http://hdl.handle.net/1721.1/109155

Similar Items