Identification of Rare Variants for Orofacial Clefts Using Publicly Available Datasets

PROJECT SUMMARY Orofacial clefts (OFCs) are the most common birth defects affecting the head and neck. Families with OFCs face significant financial, educational, medical, psychological, and cultural challenges, including instances of infanticide due to stigmatization and a lack of sociocultural support. This proposal focuses on two key aims: (1) identifying craniofacial genes with rare non-synonymous deleterious variants, and (2) identifying craniofacial enhancers with rare deleterious variants. By identifying rare deleterious variants in craniofacial genes and enhancers, these aims will advance our understanding of the genetic and molecular mechanisms underlying oral clefts (OFCs), significantly contributing to the improvement of treatment, prevention, and overall quality of life for affected individuals and families.