Analysis of Simons VIP Biospecimens Request for Applications

The Simons Variation in Individuals Project (now known as Simons Searchlight) comprises a large cohort of individuals with a deletion or duplication of chromosomal segment 16p11.2 (approximately 100 deletion and 100 duplication carriers). A wealth of phenotypic (behavioral, neurological and neuroimaging) data has been collected from these individuals and their families. The data collected so far emphasize significant phenotypic variability: About 20 percent of deletion and duplication carriers meet strict criteria for an autism diagnosis; many other carriers have other neuropsychiatric diagnoses, including a high rate of language difficulties.

This request for applications sought proposals that take advantage of the unique combination of biospecimens and rich phenotypic information collected by Simons VIP. Although SFARI was open to many different approaches, we gave priority to those that aim to accomplish a comprehensive characterization of RNA expression differences and correlate such expression patterns with phenotypes. Furthering the ability to include genomic analysis was considered be an additional strength. The data produced in this effort was later made available to the research community.