Article

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

2020-06-25

Abstract excerpt

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 int...

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Literature Corpus work: 10d13b30-0c2f-502b-b028-98c7aeb8f0a6
DOI: 10.1101/2020.06.25.169573

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