Présentation
GeneTrek is an online tool that enables users to explore the association of human genes to neurodevelopmental disorders. Users can explore their own gene list or any of the curated gene list. Once queried, GeneTrek describes whether the genes are included in known neurodevelopmental disorder gene lists, as described in Leblond et al.
It also proposes different visualizations for the predicted effect of loss-of-function and missense variants from gnomAD, as well as the prevalence and penetrance of rare loss-of-function variants in 185 ASD genes and 1,258 constrained genes, measured based on the combined analysis of ~13,000 individuals with ASD and ~200,000 controls described in Rolland et al. Nat Med 2023.
