作者
Sara L Van Driest, Quinn S Wells, Sarah Stallings, William S Bush, Adam Gordon, Deborah A Nickerson, Jerry H Kim, David R Crosslin, Gail P Jarvik, David S Carrell, James D Ralston, Eric B Larson, Suzette J Bielinski, Janet E Olson, Zi Ye, Iftikhar J Kullo, Noura S Abul-Husn, Stuart A Scott, Erwin Bottinger, Berta Almoguera, John Connolly, Rosetta Chiavacci, Hakon Hakonarson, Laura J Rasmussen-Torvik, Vivian Pan, Stephen D Persell, Maureen Smith, Rex L Chisholm, Terrie E Kitchner, Max M He, Murray H Brilliant, John R Wallace, Kimberly F Doheny, M Benjamin Shoemaker, Rongling Li, Teri A Manolio, Thomas E Callis, Daniela Macaya, Marc S Williams, David Carey, Jamie D Kapplinger, Michael J Ackerman, Marylyn D Ritchie, Joshua C Denny, Dan M Roden
发表日期
2016/1/5
期刊
Jama
卷号
315
期号
1
页码范围
47-57
出版商
American Medical Association
简介
Importance
Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.
Objective
To determine the clinical phenotypes from EMRs for individuals with variants designated as pathogenic by expert review in arrhythmia susceptibility genes.
Design, Setting, and Participants
This prospective cohort study included 2022 individuals recruited for nonantiarrhythmic drug exposure phenotypes from October 5, 2012, to September 30, 2013, for the Electronic Medical Records and Genomics Network Pharmacogenomics project from 7 US academic medical centers. Variants inSCN5AandKCNH2, disease genes for long QT and Brugada syndromes, were …
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SL Van Driest, QS Wells, S Stallings, WS Bush… - Jama, 2016