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SFARI Base

SFARI Base is a central database of clinical and genetic information about families affected by autism and other neurodevelopmental disorders, provided as part of the Simons Foundation Autism Research Initiative (SFARI). The database contains phenotype data from the Simons Simplex Collection and the Simons Variation in Individuals Project, and some individuals within the collections provide biospecimens, imaging data and the opportunity to contact them for additional research.

SFARI Base

SIMONS SIMPLEX COLLECTION

SIMONS VARIATION IN INDIVIDUALS PROJECT

About SSC
About Simons VIP

The Simons Simplex Collection (SSC) is a rigorously characterized sample of 2,644 simplex families, each of which has only one individual with an autism spectrum disorder. In addition to the wide variety of clinical data available on affected participants and unaffected parents and siblings, various biospecimens have also been collected and subsequently derived. These are available through the Rutgers University Cell and DNA Repository (RUCDR) in New Jersey. Approximately 1,500 families who participated in the SSC have also agreed to be recruited for additional studies. This process is facilitated by [email protected] and is described in the document below.

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Simons VIP uses a genetics-first approach to data collected from a large number of individuals with specific genetic variations that increase the risk of developing autism spectrum and other developmental disorders. In addition to information on roughly 200 individuals with either a deletion or a duplication of chromosomal region 16p11.2, the collection contains information on over 25 individuals with a 1q21.1 deletion or duplication. For the majority of these individuals, data and biospecimens are also available for parents and siblings. An overarching aim of Simons VIP is to understand whether brain structure, neurophysiological responses and associated clinical phenotypes will differ meaningfully among genetic etiologies and, ultimately, whether interventions can be generalized to individuals with other genetic etiologies or will be more effective if tailored to the specific genetic event.

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Explore the data

A number of tools are available to explore data from the SSC and Simons VIP. Three tools are listed below. We are actively working with investigators to develop additional data analysis and visualization tools and hope to make these resources available to researchers within the coming years.

  1. WuXi NextCODE SSC portal is a cloud-based database that allows for the visualization and analysis of whole-exome sequencing data and associated phenotypic data from the SSC. Researchers can apply for training and access to this portal here.

  2. The Genotype and Phenotype in Families tool was developed by SFARI Investigator Ivan Iossifov and his collaborators. This online interface enables users to analyze SSC data (including whole-exome sequencing data, copy number variants and phenotypic data).

  3. SFARI participates in the Beacon Project, hosted by the Global Alliance for Genomics and Health (GA4GH). A beacon answers questions of the form, "Do you have information about the following mutation?" and responds with either a "Yes" or "No." SSC data are available in aggregate through the Beacon Network.

Access SFARI resources

Before you can access genetic, phenotypic, or imaging data, biospecimens, or recontact participants, you must complete an application. The application procedure is:

If you have questions or issues during this process, please contact [email protected].

Review protocols

All information related to phenotype data and biological materials has been coded so that subjects cannot be directly identified.

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