Open AccessAssociation of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records
Author(s) -
Sara L. Van Driest,
Quinn S. Wells,
Sarah Stallings,
William S. Bush,
Allan Gordon,
Deborah A. Nickerson,
Jerry H. Kim,
David R. Crosslin,
Gail P. Jarvik,
David Carrell,
James D. Ralston,
Eric B. Larson,
Suzette J. Bielinski,
Janet E. Olson,
Zi Ye,
Iftikhar J. Kullo,
Noura S. AbulHusn,
Stuart A. Scott,
Erwin P. Böttinger,
Berta Almoguera,
John J. Connolly,
Rosetta Chiavacci,
Hákon Hákonarson,
Laura J. RasmussenTorvik,
Vivian Pan,
Stephen D. Persell,
Maureen E. Smith,
Rex L. Chisholm,
Terrie 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 J. Carey,
Jamie D. Kapplinger,
Michael J. Ackerman,
Marylyn D. Ritchie,
Joshua C. Denny,
Dan M. Roden
Publication year - 2016
Publication title -
jama
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.688
H-Index - 680
eISSN - 1538-3598
pISSN - 0098-7484
DOI - 10.1001/jama.2015.17701
Subject(s) - medicine , minor allele frequency , medical genetics , medical record , phenotype , genetic testing , genome wide association study , bioinformatics , genetics , allele frequency , single nucleotide polymorphism , allele , genotype , gene , biology
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.
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