ArticleNature genetics2024
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Genetically supported drug target prioritization for rare diseases.Genome medicine · 2026Article
- Genetic factors contributing to atherosclerosis.Current opinion in cardiology · 2026Review
- Genomics of drug target prioritization for complex diseases.Nature reviews. Genetics · 2026Review
- Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors.Circulation. Genomic and precision medicine · 2025Article
- Boosting the Power of Rare Variant Association Studies by Imputation Using Large-scale Sequencing Population.Genomics, proteomics & bioinformatics · 2025Article
- Gene therapy and genome editing for lipoprotein disorders.European heart journal · 2025Review
- Genetic analyses of eight complex diseases using predicted continuous representations of disease.Cell reports methods · 2025Article
- Risk Factors and Genetic Insights into Coronary Artery Disease-Related Sudden Cardiac Death: A Molecular Analysis of Forensic Investigation.International journal of molecular sciences · 2025Article
- The role of artificial intelligence in cardiovascular research: Fear less and live bolder.European journal of clinical investigation · 2025Review
- Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.Genome biology · 2025Article
- Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score.Nature communications · 2024Article
- Rare variant contribution to the heritability of coronary artery disease.Nature communications · 2024Article
- A digital marker for coronary artery disease.Nature reviews. Genetics · 2024Article
- Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.Nature genetics · 2024Article
- How cauliflower got its curd.Nature genetics · 2024Article
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Authors and funding
14 authors.
Funding
Abstract
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 coding variants with the in silico score for CAD in the UK Biobank, All of Us Research Program and BioMe Biobank. We identified associations in 17 genes; of these, 14 show at least moderate levels of prior genetic, biological and/or clinical support for CAD. We also observed an excess of ultrarare coding variants in 321 aggregated CAD genes, suggesting more ultrarare variant associations await discovery. These results expand our understanding of the genetic etiology of CAD and illustrate how digital markers can enhance genetic association investigations for complex diseases.
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