Sanders et al. completed whole-exome sequencing in 238 families from the Simons Simplex Collection (SSC). SSC is a comprehensively phenotyped autism spectrum disorders cohort consisting of pedigrees with two unaffected parents, an affected proband, and, in 200 families, an unaffected sibling. Based on the results of whole-exome sequencing of a total of 928 individuals Sanders et al. concluded that de novo single nucleotide variants in brain-expressed genes are associated with autism spectrum disorders and carry large effects.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.Â Sanders et al. Nature. 2012 Apr 4. PMID: 22495306
posted by Yannis Trakadis MD, MSc