Article
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Nature medicine - 1 Jan 2021
Park Joseph, Lucas Anastasia M, Zhang Xinyuan, Chaudhary Kumardeep, Cho Judy H, Nadkarni Girish, Dobbyn Amanda, Chittoor Geetha, Josyula Navya S, Katz Nathan, Breeyear Joseph H, Ahmadmehrabi Shadi, Drivas Theodore G, Chavali Venkata R M, Fasolino Maria, Sawada Hisashi, Daugherty Alan, Li Yanming, Zhang Chen, Bradford Yuki, Weaver JoEllen, Verma Anurag, Judy Renae L, Kember Rachel L, Overton John D, Reid Jeffrey G, Ferreira Manuel A R, Li Alexander H, Baras Aris, LeMaire Scott A, Shen Ying H, Naji Ali, Kaestner Klaus H, Vahedi Golnaz, Edwards Todd L, Chen Jinbo, Damrauer Scott M, Justice Anne E, Do Ron, Ritchie Marylyn D, Rader Daniel J
Abstract excerpt
The clinical impact of rare loss-of-function variants has yet to be determined for most genes. Integration of DNA sequencing data with electronic health records (EHRs) could enhance our understanding of the contribution of rare genetic variation to human disease1. By leveraging 10,900 whole-exome sequences linked to EHR data in the Penn Medicine Biobank, we addressed the association of the cumulative effects of...
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