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Article

Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Nature genetics - 1 Jul 2024

Petrazzini Ben Omega, Forrest Iain S, Rocheleau Ghislain, Vy Ha My T, Márquez-Luna Carla, Duffy Áine, Chen Robert, Park Joshua K, Gibson Kyle, Goonewardena Sascha N, Malick Waqas A, Rosenson Robert S, Jordan Daniel M, Do Ron

Abstract excerpt

Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in electronic health records captures disease progression, severity and underdiagnosis on this spectrum and could enhance genetic discovery efforts for CAD. Here we tested associations of rare and ultrarare...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38862854
DOI: 10.1038/s41588-024-01791-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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