Article
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021
Wenger Brittany M, Patel Nihir, Lui Madeline, Moscati Arden, Do Ron, Stewart Douglas R, Tartaglia Marco, Muiño-Mosquera Laura, De Backer Julie, Kontorovich Amy R, Gelb Bruce D
Abstract excerpt
PURPOSE: The purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with external features, the RASopathies and Marfan syndrome (MFS), using biobank data. METHODS: This study uses exome sequencing and corresponding phenotypic data from Mount Sinai's BioMe (n = 32,344) and the United Kingdom Biobank (UKBB; n = 49,960). Variant curation...
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