Article
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
HGG advances - 12 Jan 2023
Zieger Hanna K, Weinhold Leonie, Schmidt Axel, Holtgrewe Manuel, Juranek Stefan A, Siewert Anna, Scheer Annika B, Thieme Frederic, Mangold Elisabeth, Ishorst Nina, Brand Fabian U, Welzenbach Julia, Beule Dieter, Paeschke Katrin, Krawitz Peter M, Ludwig Kerstin U
Abstract excerpt
Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of rare variants in non-coding regions to nsCL/P etiology are sparse. Here, we re-analyzed available whole-genome sequence (WGS) data from 211 European case-parent trios with nsCL/P and identified 13,522 de novo mutations (DNMs) in nsCL/P cases, 13,055 of which...
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