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

A rare variant association study using exome sequencing data was performed on a machine learning-based marker for coronary artery disease (CAD). This identified rare coding variants in 17 genes, revealing insights into the molecular basis of CAD.

Image credit: Ron Do, PhD, and Ben Omega Petrazzini, BS

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.

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