Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

Abstract
Congenital Heart Disease (CHD) affects approximately 7-9 children per 1000 live births. Numerous genetic studies have established a role for rare genomic variants at the copy number variation (CNV) and single nucleotide variant level. In particular, the role of de novo mutations (DNM) has been highlighted in syndromic and non-syndromic CHD. To identify novel haploinsufficient CHD disease genes we performed an integrative analysis of CNVs and...
Paper Details
Title
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Published Date
Jun 25, 2020
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