Autism spectrum disorder (ASD) is a complex genetic condition, with known associations primarily to a small set of genes, making it difficult to pinpoint genetic causes in many cases.
Researchers sequenced the whole genomes of 119 individuals with ASD to identify likely harmful genetic variants, focusing on the predicted impact and existing evidence for each variant.
The study discovered five new damaging variants and confirmed two novel variants in a well-known ASD gene, SCN2A, enhancing understanding of genetic factors and their link to ASD symptoms.