The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

Nature Genetics · Jun 1, 2022Peer-reviewedGenetics

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

Cardiovascular Disease Related Proteomic Biomarkers of Alcohol Consumption

Xianbang Sun, Jennifer E. Ho, He Gao, Εvangelos Εvangelou, Chen Yao, Tianxiao Huan, Shih‐Jen Hwang, Paul L. Courchesne, Martin G. Larson, Daniel A Levy, Jiantao Ma, Chunyu Liu

This study identifies 20 alcohol-associated proteins and shows complex relationships between alcohol consumption, circulating proteins, and cardiovascular disease risk factors.

bioRxiv · Oct 17, 2020 · PreprintBioinformatics