Whole genome sequencing to characterize monogenic and polygenic contributions in patients hospitalized with early-onset myocardial infarction

BACKGROUND: The relative prevalence and clinical importance of monogenic mutations related to familial hypercholesterolemia and of high polygenic score (cumulative impact of many common variants) pathways for early-onset myocardial infarction remain uncertain. Whole genome sequencing enables simulta...

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Pubblicato in:Circulation
Autori principali: Khera, Amit V., Chaffin, Mark, Zekavat, Seyedeh Maryam, Collins, Ryan L., Roselli, Carolina, Natarajan, Pradeep, Lichtman, Judith H., D’Onofrio, Gail, Mattera, Jennifer, Dreyer, Rachel, Spertus, John A., Taylor, Kent D., Psaty, Bruce M., Rich, Stephen S., Post, Wendy, Gupta, Namrata, Gabriel, Stacey, Lander, Eric, Chen, Yii-Der Ida, Talkowski, Michael E., Rotter, Jerome I., Krumholz, Harlan M., Kathiresan, Sekar
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6433484/
https://ncbi.nlm.nih.gov/pubmed/30586733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCULATIONAHA.118.035658
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