However, despite these limitations, the manner in which the design mitigated important confounds, and preserved sufficient power to detect association of recurrent de novo events, yielded clear benefits, unambiguously replicating prior findings and identifying novel risk loci. Moreover, this report considers less than half of the Simons Simplex Collection: phase 2 of this study is currently underway, as is high-throughput sequencing of the collection, also focusing on de novo events. Together these endeavors promise to further illuminate the genomic architecture of simplex autism and to provide additional critical points of traction for efforts toward elaborating the molecular mechanisms and developmental neurobiology underlying ASD.
