de novo mutations and autism

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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. Sanders et al. Nature. 2012 Apr 4. PMID: 22495306

posted by Yannis Trakadis MD, MSc

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