New AI Tool Finds Rare Variants Linked to Heart Disease in 17 Genes

Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause of morbidity and mortality worldwide. The discoveries, detailed in the June 11 online issue of Nature Genetics, reveal genetic factors impacting heart disease that open new avenues for targeted treatments and personalized approaches to cardiovascular care. The investigators used an in silico, or computer-derived, score for coronary artery disease (ISCAD) that holistically represents CAD, as described in a previous paper by the team in The Lancet. The ISCAD score incorporates hundreds of different clinical features from the electronic health record, including vital signs, laboratory test results, medications, symptoms, and diagnoses. To build the score, they trained machine learning models on the electronic health records of 604,914 individuals 

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