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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Enregistré dans:
Détails bibliographiques
Publié dans:J Am Heart Assoc
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Research
Accès en ligne: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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