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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Detalles Bibliográficos
Publicado en: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: John Wiley and Sons Inc. 2020
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Original Research
Acceso en liña: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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