Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

Summary: The diaphragm is critical for respiration and separation of the thoracic and abdominal cavities, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDH), a common and often lethal birth defect. The genetic etiology of CDH is complex. Single-nucleotide va...

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Bibliographic Details
Main Authors: Eric L. Bogenschutz, Zac D. Fox, Andrew Farrell, Julia Wynn, Barry Moore, Lan Yu, Gudrun Aspelund, Gabor Marth, Mark Yandell, Yufeng Shen, Wendy K. Chung, Gabrielle Kardon
Format: Article
Language:English
Published: Elsevier 2020-10-01
Series:HGG Advances
Subjects:
congenital diaphragmatic hernia
CDH
structural birth defect
whole-genome sequencing
WGS
genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247720300087

Internet

http://www.sciencedirect.com/science/article/pii/S2666247720300087

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