Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants

BACKGROUND: Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare genetic variation and its role in mediating cardiovascular phenotypes is confounded by variants of uncertain significance. METHODS AND RESULTS: We analyze...

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Detalhes bibliográficos
Publicado no:J Am Heart Assoc
Main Authors: Pottinger, Tess D., Puckelwartz, Megan J., Pesce, Lorenzo L., Robinson, Avery, Kearns, Samuel, Pacheco, Jennifer A., Rasmussen‐Torvik, Laura J., Smith, Maureen E., Chisholm, Rex, McNally, Elizabeth M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7033893/
https://ncbi.nlm.nih.gov/pubmed/32009526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/JAHA.119.013808
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