Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction | Zendy

Amit V. Khera | Zendy; Mark Chaffin | Zendy; Seyedeh M. Zekavat | Zendy; Ryan L. Collins | Zendy; Carolina Roselli | Zendy; Pradeep Natarajan | Zendy; Judith H. Lichtman | Zendy; Gail D’Onofrio | Zendy; Jennifer A. Mattera | Zendy; Rachel P. Dreyer | Zendy; John A. Spertus | Zendy; Kent D. Taylor | Zendy; Bruce M. Psaty | Zendy; Stephen S. Rich | Zendy; Wendy S. Post | Zendy; Namrata Gupta | Zendy; Stacey Gabriel | Zendy; Eric S. Lander | Zendy; YiiDer Ida Chen | Zendy; Michael E. Talkowski | Zendy; Jerome I. Rotter | Zendy; Harlan M. Krumholz | Zendy; Sekar Kathiresan | Zendy

Open Access

Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction

Author(s) -

Amit V. Khera,

Mark Chaffin,

Seyedeh M. Zekavat,

Ryan L. Collins,

Carolina Roselli,

Pradeep Natarajan,

Judith H. Lichtman,

Gail D’Onofrio,

Jennifer A. Mattera,

Rachel P. Dreyer,

John A. Spertus,

Kent D. Taylor,

Bruce M. Psaty,

Stephen S. Rich,

Wendy S. Post,

Namrata Gupta,

Stacey Gabriel,

Eric S. Lander,

YiiDer Ida Chen,

Michael E. Talkowski,

Jerome I. Rotter,

Harlan M. Krumholz,

Sekar Kathiresan

Publication year - 2019

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.118.035658

Subject(s) - medicine , myocardial infarction , whole genome sequencing , genome , genome wide association study , genetics , cardiology , gene , single nucleotide polymorphism , genotype , biology

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 simultaneous ascertainment of both monogenic mutations and polygenic score for each individual.

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