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

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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. Abul‐Husn , Stuart A. Scott , Erwin P. Böttinger , Berta Almoguera , John J. Connolly , Rosetta Chiavacci , Hákon Hákonarson , Laura J. Rasmussen‐Torvik , 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 ·

YOU? · · 2016 · Open Access · · DOI: https://doi.org/10.1001/jama.2015.17701

Among laboratories experienced in genetic testing for cardiac arrhythmia disorders, there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype. These findings raise questions about the implications of notifying patients of incidental genetic findings.

Related Topics

Genome-Wide Association Study

Bioinformatics

Internal Medicine

Biology

Concepts

Medicine Minor allele frequency Medical genetics Medical record Phenotype Genetic testing Genome-wide association study Bioinformatics Genetics Allele frequency Internal medicine Single-nucleotide polymorphism Allele Genotype Gene Biology

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Type: article
Language: en
Landing Page: https://doi.org/10.1001/jama.2015.17701
PDF: https://jamanetwork.com/journals/jama/articlepdf/2480485/joi150157.pdf
OA Status: bronze
Cited By: 170
References: 42
Related Works: 10
OpenAlex ID: https://openalex.org/W2227098102

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OpenAlex ID: https://openalex.org/W2227098102

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DOI: https://doi.org/10.1001/jama.2015.17701

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

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Type: article

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Language: en

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Publication year: 2016

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Publication date: 2016-01-05

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Authors: 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. Abul‐Husn, Stuart A. Scott, Erwin P. Böttinger, Berta Almoguera, John J. Connolly, Rosetta Chiavacci, Hákon Hákonarson, Laura J. Rasmussen‐Torvik, 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

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Landing page: https://doi.org/10.1001/jama.2015.17701

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PDF URL: https://jamanetwork.com/journals/jama/articlepdf/2480485/joi150157.pdf

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OA status: bronze

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OA URL: https://jamanetwork.com/journals/jama/articlepdf/2480485/joi150157.pdf

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Concepts: Medicine, Minor allele frequency, Medical genetics, Medical record, Phenotype, Genetic testing, Genome-wide association study, Bioinformatics, Genetics, Allele frequency, Internal medicine, Single-nucleotide polymorphism, Allele, Genotype, Gene, Biology

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Cited by: 170

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References (count): 42

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Related works (count): 10

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