Comprehensive Whole-Genome Sequence Annotation to Resolve the Genetic Architecture of Cerebral Palsy

Cerebral palsy (CP) is a permanent, non-progressive brain injury leading to movement and posture disorders. It can involve comorbidities, including other neurodevelopmental disorders (NDD). Genomic studies, focused mainly on the role of copy number variations (CNVs) identified using whole genome microarrays, and rare single nucleotide variants (SNVs) and insertions/deletions (indels) from exome sequencing, have shown that genomic changes have increasingly been found to play a role in etiology of CP and other NDDs. We applied Whole Genome Sequencing (WGS) to uncover a more complete landscape of genetic variations in both nuclear and mitochondrial DNA (CNVs, structural variations (SVs), SNVs, indels, tandem repeat (TR) variations, and mitochondrial DNA (mtDNA) variations) on a representative sample of individuals with CP recruited from CP-NET (Ontario) and the Canadian CP Registry. The cohort included 308 complete trio and four quartet families.EGA study EGAS00001006724