De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Abstract
Background Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic CHD. Methods CHD is genetically heterogeneous, making pathway enrichment analysis an effective approach to explore and statistically validate...
Paper Details
Title
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Published Date
Jan 15, 2020
Journal
Volume
12
Issue
1
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