Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.
作者信息
Lewis Matthew J, Hsieh Alexander, Qiao Lu, Tan Renjie, Kazzi Brigitte, Channing Alexandra, Griffin Emily L, Jobanputra Vaidehi, Su Jennifer, Shahryar Chowdhury, Kochilas Lazaros, Gaynor J William, Lee Teresa, Goldmuntz Elizabeth, Russell Mark, Mital Seema, Tristani Martin, Brueckner Martina, Newburger Jane, Shen Yufeng, Chung Wendy K
机构信息
Department of Medicine (M.J.L., B.K., W.K.C.), Columbia University Irving Medical Center, New York.
Departmens of Systems Biology and Biomedical Informatics (A.H., R.T., Y.S.), Columbia University Irving Medical Center, New York.
出版信息
Circ Genom Precis Med. 2023 Apr;16(2):e003900. doi: 10.1161/CIRCGEN.122.003900. Epub 2023 Mar 3.
Abstract
摘要
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本文引用的文献
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.REVEL：一种预测罕见错义变异致病性的集成方法。
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