Description
Dr. Kerstin U. Ludwig will present on their identification of risk variants for non-syndromic cleft lip with/without cleft palate, using whole-genome sequence data. She will specifically discuss different strategies that were applied to analyze those de novo sequence variation located within the non-coding parts of the genome.
Overview of Presentation
- Orofacial clefting is a common and highly heritable phenotype.
- Whole-genome-sequencing data from parents and affected children enables identification of de novo sequence variation also in non-coding regions, but implicating those variants in disease etiology is challenging.
- Across the non-coding genome, the “search space” for causal de novo mutations (DNM) can be reduced by intersecting genomic positions of DNMs with genetic regions that have been shown with functional relevance to facial development.
- Also, sequence features around DNMs can be integrated with transcription factor binding sequences / motifs, to predict potential changes in presence and/or strength of binding effects.
