Autism Spectrum Disorder (ASD) is a prominent neurodevelopmental disorder (NDD) characterised by social, behavioural, and communicative deficits manifesting across a spectrum. ASD is highly heritable and complex both in genotype and phenotype. A combined effect of rare and common genetic variants are involved in the complex genetic risk for ASD, but currently the majority of genetic risk remains not fully understood. Genomic studies investigate genetic material to identify potentially harmful variants which may precipitate diseases. Whole Genome Sequencing (WGS) techniques sequence entire DNA sequences and have the potential to transform our understanding of the genetic basis of autism. WGS provides more in-depth analysis than older techniques. Family-based studies are key to understanding how genetic variations potentially related to ASD can be transmitted from parents to children or de novo variations. SFARI gene is an extensive online database and key resource to investigate gene involvement in ASD. EAGLE, a new gene-scoring metric provides numerical values representing the strength of association between a gene and ASD to evaluate a gene’s relevance to ASD specifically, opposed to a broad range of NDDs. Identifying ASD specific variants opposed to other NDDs would be invaluable to improve understanding of ASD neurobiology.
I will apply this new gene-scoring metric to WGS family data and compare to traditional gene-scoring. This project will be extremely impactful to evaluate a new ASD genome resource that has the potential to identify genetic variants specific to ASD phenotype.
