Molecular pathology selected abstracts
June 2026—Studies of genetic variants in autism spectrum disorders have identified copy-number variants and single-nucleotide variants in more than 100 autism spectrum disorder-associated genes. However, much of the genetic and neurobiological bases of such disorders are still unclear. Some of the yet unexplained genetic basis of autism spectrum disorder (ASD) may lie in variants that may be difficult to detect by short-read whole genome sequencing (SR-WGS), such as specific structural variants and tandem repeats.