Article
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
Circulation. Genomic and precision medicine - 1 Jun 2023
Yu Mengyao, Aguirre Matthew, Jia Meiwen, Gjoni Ketrin, Cordova-Palomera Aldo, Munger Chad, Amgalan Dulguun, Rosa Ma X, Pereira Alexandre, Tcheandjieu Catherine, Seidman Christine, Seidman Jonathan, Tristani-Firouzi Martin, Chung Wendy, Goldmuntz Elizabeth, Srivastava Deepak, Loos Ruth J F, Chami Nathalie, Cordell Heather, Dreßen Martina, Mueller-Myhsok Bertram, Lahm Harald, Krane Markus, Pollard Katherine S, Engreitz Jesse M, Gagliano Taliun Sarah A, Gelb Bruce D, Priest James R
Abstract excerpt
BACKGROUND: Congenital heart disease (CHD) is highly heritable, but the power to identify inherited risk has been limited to analyses of common variants in small cohorts. METHODS: We performed reimputation of 4 CHD cohorts (n=55 342) to the TOPMed reference panel (freeze 5), permitting meta-analysis of 14 784 017 variants including 6 035 962 rare variants of high imputation quality as validated by whole genome...
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