A general framework for estimating the relative pathogenicity of human genetic variants
10.1038/ng.2892
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Kircher, M., Witten, D. M., Jain, P., O’Roak, B. J., Cooper, G. M., & Shendure, J. (2014). A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics, 46(3), 310–315.

Authors 6
  1. Martin Kircher (first)
  2. Daniela M Witten (additional)
  3. Preti Jain (additional)
  4. Brian J O'Roak (additional)
  5. Gregory M Cooper (additional)
  6. Jay Shendure (additional)
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Dates
Type When
Created 11 years, 7 months ago (Feb. 2, 2014, 4:46 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 4:57 p.m.)
Indexed 16 hours, 13 minutes ago (Sept. 4, 2025, 9:41 a.m.)
Issued 11 years, 7 months ago (Feb. 2, 2014)
Published 11 years, 7 months ago (Feb. 2, 2014)
Published Online 11 years, 7 months ago (Feb. 2, 2014)
Published Print 11 years, 6 months ago (March 1, 2014)
Funders 0

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@article{Kircher_2014, title={A general framework for estimating the relative pathogenicity of human genetic variants}, volume={46}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng.2892}, DOI={10.1038/ng.2892}, number={3}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Kircher, Martin and Witten, Daniela M and Jain, Preti and O’Roak, Brian J and Cooper, Gregory M and Shendure, Jay}, year={2014}, month=feb, pages={310–315} }