Rihar et al 2023

This research article discusses the use of gene burden analysis to identify potentially pathogenic variants for autism. The study used whole exome sequencing data of Slovenian autistics and conducted gene burden analysis using the Testing Rare Variants with Public Data (TRAPD) software. The study identified two variants, p.Glu198Lys and p.Arg253Gln, associated with autism. The study also performed protein structure and ligand binding analysis to determine the potential pathogenic consequence of observed mutations. The results suggest that gene-burden analysis is a useful tool for identifying novel pathogenic variants in groups of autistics.