Deep whole genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias
Eric L. Bogenschutz, Zac D Fox, Andrew Farrell, Julia Wynn, Barry Moore, Lan Yu, Guðrún Aspelund, Gábor Marth, Mark D. Yandell, Yufeng Shen, Wendy K. Chung, Gabrielle Kardon
The paper uses deep whole genome sequencing to analyze genetic variants in CDH patients and their families, revealing heterogeneous and multifactorial genetic etiology.
Human Genetics and Genomics Advances · Aug 25, 2020Peer-reviewedGenetics