Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of

Autor: Hanna K, Zieger, Leonie, Weinhold, Axel, Schmidt, Manuel, Holtgrewe, Stefan A, Juranek, Anna, Siewert, Annika B, Scheer, Frederic, Thieme, Elisabeth, Mangold, Nina, Ishorst, Fabian U, Brand, Julia, Welzenbach, Dieter, Beule, Katrin, Paeschke, Peter M, Krawitz, Kerstin U, Ludwig
Rok vydání: 2022
Zdroj: HGG advances. 4(1)
ISSN: 2666-2477
Popis: 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
Databáze: OpenAIRE