Artificial Intelligence and Cardiovascular Genetics

Chayakrit Krittanawong, Kipp W. Johnson, Edward Choi, Scott Kaplin, Eric Venner, Mullai Murugan, Zhen Wang, Benjamin S. Glicksberg, Christopher I. Amos, Michael C. Schatz, W. H. Wilson Tang

Research output: Contribution to journalReview articlepeer-review


Polygenic diseases, which are genetic disorders caused by the combined action of multiple genes, pose unique and significant challenges for the diagnosis and management of affected patients. A major goal of cardiovascular medicine has been to understand how genetic variation leads to the clinical heterogeneity seen in polygenic cardiovascular diseases (CVDs). Recent advances and emerging technologies in artificial intelligence (AI), coupled with the ever-increasing availability of next generation sequencing (NGS) technologies, now provide researchers with unprecedented possibilities for dynamic and complex biological genomic analyses. Combining these technologies may lead to a deeper understanding of heterogeneous polygenic CVDs, better prognostic guidance, and, ultimately, greater personalized medicine. Advances will likely be achieved through increasingly frequent and robust genomic characterization of patients, as well the integration of genomic data with other clinical data, such as cardiac imaging, coronary angiography, and clinical biomarkers. This review discusses the current opportunities and limitations of genomics; provides a brief overview of AI; and identifies the current applications, limitations, and future directions of AI in genomics.

Original languageEnglish (US)
Article number279
Issue number2
StatePublished - Feb 2022


  • AI
  • Artificial intelligence
  • Cardiology
  • Cardiovascular disease
  • Deep learning
  • Genetics
  • Genomics
  • Machine learning

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • General Biochemistry, Genetics and Molecular Biology
  • Space and Planetary Science
  • Palaeontology


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