Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

doi:10.1001/jama.2015.17701

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Article

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

JAMA - 5 Jan 2016

Van Driest Sara L, Wells Quinn S, Stallings Sarah, Bush William S, Gordon Adam, Nickerson Deborah A, Kim Jerry H, Crosslin David R, Jarvik Gail P, Carrell David S, Ralston James D, Larson Eric B, Bielinski Suzette J, Olson Janet E, Ye Zi, Kullo Iftikhar J, Abul-Husn Noura S, Scott Stuart A, Bottinger Erwin, Almoguera Berta, Connolly John, Chiavacci Rosetta, Hakonarson Hakon, Rasmussen-Torvik Laura J, Pan Vivian, Persell Stephen D, Smith Maureen, Chisholm Rex L, Kitchner Terrie E, He Max M, Brilliant Murray H, Wallace John R, Doheny Kimberly F, Shoemaker M Benjamin, Li Rongling, Manolio Teri A, Callis Thomas E, Macaya Daniela, Williams Marc S, Carey David, Kapplinger Jamie D, Ackerman Michael J, Ritchie Marylyn D, Denny Joshua C, Roden Dan M

Abstract excerpt

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...

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PMID: 26746457
DOI: 10.1001/jama.2015.17701
PMCID: PMC4758131

Genes

KCNH2

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