Diagnostic yields of whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) are comparable among a heterogeneous sample of children with autism spectrum disorder (ASD), according to a study published September 1 in the Journal of the American Medical Association. The combined molecular diagnostic yield of the two technologies was significantly higher in children with more complex morphological phenotypes. The authors say these findings may inform appropriate selection of molecular diagnostic testing for children affected by ASD. Currently, CMA is the recommended first-tier genetic test for individuals with ASD, with a documented diagnostic yield ranging from 7 percent to 9 percent, while WES is still primarily used in research settings. In the current study, CMA (for detection of copy-number variants) and WES (for single nucleotide mutation detection) were performed in a heterogeneous group of unrelated children with ASD (all 258 participants for CMA and 95 randomly selected probands with samples from both parents for WES). Targeted-sequencing was conducted in cases of suspected syndromes. The children also underwent detailed assessments to determine the presence of major congenital abnormalities and minor physical anomalies and probands were phenotypically stratified by morphological severity. The complex phenotype was defined as the presence of multiple minor physical […]