Deep learning enables genetic analysis of the human thoracic aorta
James P. Pirruccello, Mark D. Chaffin, Elizabeth L. Chou, Stephen J. Fleming, Honghuang Lin, Mahan Nekoui, Shaan S. Khurshid, Sam Freesun Friedman, Alexander G. Bick, Alessandro Arduini, Lu-Chen C Weng, Seung Hoan Choi, Amer-Denis Akkad, Puneet Batra, Nathan R. Tucker, , Patrick T. Ellinor
This study uses deep learning to analyze aortic dimensions from MRI and identifies genetic loci associated with aortic diameter, highlighting SVIL as a key gene and developing a polygenic score for aneurysm risk.
Nature Genetics · Nov 26, 2021Peer-reviewedGenomics