Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations-Reference-Cited by-同舟云学术

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Published:2021-01 Issue:1 Volume:27 Page:66-72
ISSN:1078-8956
Container-title:Nature Medicine
language:en
Short-container-title:Nat Med

Author:

Park Joseph^ORCID,Lucas Anastasia M.,Zhang Xinyuan^ORCID,Chaudhary Kumardeep,Cho Judy H.^ORCID,Nadkarni Girish,Dobbyn Amanda,Chittoor Geetha^ORCID,Josyula Navya S.^ORCID,Katz Nathan,Breeyear Joseph H.^ORCID,Ahmadmehrabi Shadi,Drivas Theodore G.^ORCID,Chavali Venkata R. M.,Fasolino Maria,Sawada Hisashi^ORCID,Daugherty Alan,Li Yanming^ORCID,Zhang Chen,Bradford Yuki,Weaver JoEllen,Verma Anurag,Judy Renae L.,Kember Rachel L.,Overton John D.,Reid Jeffrey G.^ORCID,Ferreira Manuel A. R.,Li Alexander H.,Baras Aris^ORCID,LeMaire Scott A.,Shen Ying H.,Naji Ali^ORCID,Kaestner Klaus H.,Vahedi Golnaz,Edwards Todd L.^ORCID,Chen Jinbo,Damrauer Scott M.,Justice Anne E.,Do Ron^ORCID,Ritchie Marylyn D.^ORCID,Rader Daniel J.^ORCID

Funder

U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

Sarnoff Cardiovascular Research Foundation

American Heart Association

Institute for Translational Medicine and Therapeutics’ (ITMAT) Transdisciplinary Program in Translational Medicine and Therapeutics

U.S. Department of Health & Human Services | National Institutes of Health

U.S. Department of Health & Human Services | NIH | National Eye Institute

BrightFocus Foundation grant, Lisa Dean Moseley Foundation Grant, Research to Prevent Blindness, F.M. Kirby Foundation, and The Paul and Evanina Bell Mackall Foundation Trust

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.nature.com/articles/s41591-020-1133-8.pdf

Reference65 articles.

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3. Bush, W. S., Oetjens, M. T. & Crawford, D. C. Unravelling the human genome–phenome relationship using phenome-wide association studies. Nat. Rev. Genet. 17, 129–145 (2016).

4. Verma, A. et al. Human-disease phenotype map derived from PheWAS across 38,682 individuals. Am. J. Hum. Genet. 104, 55–64 (2019).

5. Zhang, X., Basile, A. O., Pendergrass, S. A. & Ritchie, M. D. Real-world scenarios in rare-variant association analysis: the impact of imbalance and sample size on the power in silico. BMC Bioinformatics 20, 46 (2019).

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