Article
Rare variants analyses suggest novel cleft genes in the African population.
Scientific reports - 20 Jun 2024
Alade Azeez, Mossey Peter, Awotoye Waheed, Busch Tamara, Oladayo Abimbola M, Aladenika Emmanuel, Olujitan Mojisola, Wentworth Emma, Anand Deepti, Naicker Thirona, Gowans Lord J J, Eshete Mekonen A, Adeyemo Wasiu L, Zeng Erliang, Van Otterloo Eric, O'Rorke Michael, Adeyemo Adebowale, Murray Jeffrey C, Cotney Justin, Lachke Salil A, Romitti Paul, Butali Azeez
Abstract excerpt
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability. Thus, our study aimed to identify genes enriched with nonsynonymous rare coding variants associated with NSOFCs. Our sample included 814...
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