Tuesday, May 24, 2022
5/24/2022
PROJECT SUMMARY The focus of this study is to identify meaningful genetic and genomic factors that predict cleft outcomes in families in the African population, translate findings to other populations in order to design strategies towards reducing the outcome and prevention of CLP. We plan to replicate African GWAS significant loci in 1000 CL/P cases, 400 CP and 2000 controls by genotyping 172 single nucleotide polymorphisms. We also plan to conduct whole genome sequencing of 300 triads (proband with bilateral complete cleft lip and palate) and analyses whole genome sequencing (WGS) data of 150 CL/P triads. Finally, we plan to determine the functional consequences of GWAS non-coding variants by systematically testing SNPs with strongest disease association. This study will be led by Dr Butali at the University of Iowa in collaboration with Dr Cornell, Dr Murray and Dr Cao at the University of Iowa, Dr Adeyemo at the NHGRI and Dr Taub at the John Hopkins University.
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