Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing

We explore three cases of pediatric neurological diseases, viz. Arthrogryposis, congenital bilateral cataract and Autism by analyzing clinical exomes. As genetic variation attributing to pathogenesis is a significant bottleneck, we attempted to understand and validate them using Sanger validation. We further employ our CONVEX pipeline to infer pathogenic variants and discern the candidate genes for phenotype correlation.