Genome-wide Investigation of Short Tandem Repeat Variation in Autism Spectrum Disorder

Short tandem repeats (STRs) may contribute to the genetic etiology of autism spectrum disorder (ASD) since several pathogenic STRs are ASD risk factors. Screening for STR variation may uncover novel risk loci, however, this was previously hindered by the difficulty of aligning repetitive sequences in whole genome sequencing (WGS) data. Recently, several tools have been developed to genotype STRs from WGS data. In this study, a STR genotyping pipeline was created to perform a genome-wide screen for repeat variation in an ASD genomic database, MSSNG. This work uncovered 4925 STRs, and variation was identified in ASD-risk loci, repeat disorder genes, and other pathogenic loci. In particular, repeat expansions upstream of the CRYBB2 gene were seen significantly more frequently in individuals with ASD than a control population. These findings suggest that this STR genotyping pipeline can detect repeat variation in ASD, and may lead to the discovery of novel candidate loci.M.Sc.2020-11-21 00:00:0