Genome-wide detection of tandem DNA repeats that are expanded in autism.

ABSTRACT: Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic disorders¹. Their involvement in disorders with complex genetics is largely unknown, as is the extent of their heterogeneity. Here we investigated the genome-wide characteristics of tandem repeats that had motifs with a length of 2-20 base pairs in 17,231 genomes of families containing individuals with autism spectrum disorder (ASD)^2,3 and population control individuals⁴. We found extensive polymorphism in the size and sequence of motifs. Many of the tandem repeat loci that we detected correlated with cytogenetic fragile sites. At 2,588 loci, gene-associated expansions of tandem repeats that were rar

SUBMITTER: Trost B 

PROVIDER: S-EPMC9348607 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature