Detection of Clinically Relevant Variants in Autism Spectrum Disorder

12/22/2014; 82 minutes

Autism Spectrum Disorder (ASD) demonstrates high heritability, familial clustering and ~4:1 male to female bias, yet the causes are only partially understood, due to extensive clinical and genetic heterogeneity. Whole genome sequencing (WGS) promises added value to identify novel ASD risk genes, as well as new mutations in known loci, but an assessment of its full utility in an ASD group has not been performed. (#25984)

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