Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

Abstract Background Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability. Studies show that some of the hidden heritabili...

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Main Authors: Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L. Mehrem, Ariane C. Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada‐Iglesias, Michaela Bartusel, Augusto Rojas‐Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M. Nöthen, Michael Nothnagel, Tim Becker, Kerstin U. Ludwig, Elisabeth Mangold
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
candidate genes
de novo variants
exome sequencing
nonsyndromic cleft lip with/without cleft palate
polygenic risk
single‐molecule molecular inversion probes
Online Access:https://doi.org/10.1002/mgg3.2109

Internet

https://doi.org/10.1002/mgg3.2109

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