Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–ph...
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations
About this item
Full title
Author / Creator
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. and Rader, Daniel J.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 disease
1
. By leveraging 10,900 whole-exome sequences linked to EHR data in the Penn Med...
Alternative Titles
Full title
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8775355
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8775355
Other Identifiers
ISSN
1078-8956
E-ISSN
1546-170X
DOI
10.1038/s41591-020-1133-8
