Genomic analyses implicate noncoding de novo variants in congenital heart disease.

doi:10.1038/s41588-020-0652-z

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Article

Genomic analyses implicate noncoding de novo variants in congenital heart disease.

Nature genetics - 1 Aug 2020

Richter Felix, Morton Sarah U, Kim Seong Won, Kitaygorodsky Alexander, Wasson Lauren K, Chen Kathleen M, Zhou Jian, Qi Hongjian, Patel Nihir, DePalma Steven R, Parfenov Michael, Homsy Jason, Gorham Joshua M, Manheimer Kathryn B, Velinder Matthew, Farrell Andrew, Marth Gabor, Schadt Eric E, Kaltman Jonathan R, Newburger Jane W, Giardini Alessandro, Goldmuntz Elizabeth, Brueckner Martina, Kim Richard, Porter George A, Bernstein Daniel, Chung Wendy K, Srivastava Deepak, Tristani-Firouzi Martin, Troyanskaya Olga G, Dickel Diane E, Shen Yufeng, Seidman Jonathan G, Seidman Christine E, Gelb Bruce D

Abstract excerpt

A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffected trios. Neural network prediction of noncoding DNV transcriptional impact identified a burden of DNVs...

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PMID: 32601476
DOI: 10.1038/s41588-020-0652-z
PMCID: PMC7415662

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