The Simons Foundation Autism Research Initiative (SFARI) has developed SFARI Base, a web-based information system that supports data acquisition, curation and distribution for scientific studies and related resources, such as the Simons Simplex Collection (SSC) and the Simons Variation in Individuals Project (Simons VIP). Each clinical site in these studies uses software compatible with SFARI Base to collect data and keep track of identifying information for each study participant.
In the case of the SSC, by the time recruitment ended, 2,700 families at 13 clinical sites were included. Each site transmitted study data to a central database, with participants’ identifying information removed. Biological specimens obtained from family members are stored at the Rutgers University Cell and DNA Repository (RUCDR) in New Jersey. Central storage of the data enables expert curators to assess data quality and work with the clinical sites to make corrections as needed. Data collection is ongoing for the Simons VIP, with the goal of recruiting 100 individuals with a 16p11.2 deletion and 100 individuals with a 16p11.2 duplication. Biological specimens are stored at RUCDR for this collection, and data and samples are currently available for ordering.
SFARI Base provides sophisticated interfaces to enable approved researchers around the world to explore clinical data, place orders for specimens and obtain data produced by genetic analysis. The researchers are required to add their results to the central database, creating a growing pool of scientific knowledge. A future goal is for the system to store or link to results obtained from research studies, creating a growing pool of scientific knowledge from DNA sequencing, electrophysiological, neuroimaging, cognitive and behavioral studies.
SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility. The SFARI Gene web portal seamlessly integrates different kinds of genetic data that are being generated by research studies, and in so doing encourages the generation of new hypotheses.
Users will find a thoroughly annotated list of genes that have been studied in the context of autism, with information on the genes themselves, relevant references from the literature, and the nature of the evidence. Uniquely, SFARI Gene incorporates information on both common and rare genetic variation. The site also presents links from the human data to information about lines of genetically modified mice that represent potential models of autism. This information includes the nature of the targeting construct, the background strain and, most importantly, a thorough summary of the phenotypic features of the mice that are most relevant to autism. Recently, a protein interaction database has been added, which lists protein-protein and protein-nucleic acid interactions for a large number of candidate gene products. Soon to come will be a 'score' for each candidate gene in autism, based on the strength of the human genetic evidence as assessed by a panel of expert advisors.
We encourage community involvement in the development of SFARI Gene, and will update annotations based on the well-supported recommendations of any interested researcher.