Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank.

doi:10.1161/CIRCGEN.125.005494

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Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank.

Circulation. Genomic and precision medicine - 1 Jun 2026

Xu Jianfeng, Shi Zhuqing, Khetarpal Sumeet A, Mulford Ashley J, Siddiqui Osama, Tran Huy, Wei Jun, Ashworth Annabelle, Zheng S Lilly, Duggan David, Helfand Brian T, Dunnenberger Henry M, Hulick Peter J, Davidson David J, Khera Amit V, Patel Aniruddh P, Sanders Alan R, Qamar Arman

Abstract excerpt

BACKGROUND: Current genetic testing for coronary artery disease (CAD) primarily targets monogenic variants in individuals with severe hypercholesterolemia. Whether supplementing monogenic testing with polygenic risk scores for CAD and Lp(a; lipoprotein[a]) levels [PRSLp(a)] improves identification of high-risk individuals in the general population remains understudied. METHODS: A genetic probability for CAD...

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PMID: 41958402
DOI: 10.1161/CIRCGEN.125.005494

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