[S4.4]: The genetic architecture of autism: What can common SNP association tell us about rare copy number variants?

The past few years have witnessed an explosion of knowledge in the genetics of common disease, largely due to the advent of new molecular technologies. We now have unparalleled opportunities to measure different forms of genetic variation in large samples and can hope to begin unraveling the heritable basis of neuropsychiatric disease. Multiple genome-wide studies and meta-analyses have been performed for schizophrenia and other common neuropsychiatric diseases, and point to important roles for both common variation and rare structural variation, in particular large genic deletions and duplications. Nonetheless, we are still very far from explaining even a modest proportion of the total genetic risk. A new generation of whole-exome and whole-genome sequencing studies has recently been initiated, which will potentially identify other forms of rare disease variation. I will review progress in these studies, with a focus on an ongoing whole-exome sequencing study of schizophrenia. A more integrative approach to the genetics of neuropsychiatric disease is important, as large-scale studies begin to bring together a fuller range of variation, all of which might play critical roles in a heterogeneous disease such as schizophrenia.