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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.




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 SSC@IAN 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 or Simons VIP. Two search 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 next year.

  1. SFARI Base Variable Search is a tool for all researchers who wish to explore the Simons Simplex Collection or Simons VIP dataset prior to submitting an application. It will help researchers identify variables relevant to their investigations.

    To build a dataset with this tool, you need to:

    If you have questions regarding this process, please contact collections@sfari.org.

  2. SFARI Beacon allows users to query DNA sequence variants from individuals in the SSC. It is designed as an open web service that accepts simple queries of the form, “Do you have any cases in the SSC with a ‘T’ at position 201958192 on chromosome 1?” and responds with ‘Yes’, or ‘No’

    SFARI Beacon has been federated with other Beacons through the Beacon Project hosted by the Global Alliance for Genomics and Health (GA4GH).

    Click here to submit a query.

Access SFARI resources

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

  • Log in to SF I.D. here in order to access SFARI Base. If you do not have a SF I.D., create one here.
  • Affiliate with an institution by going here. If your institution is not already registered on SFARI Base, you can send a request to collections@sfari.org.
  • Review the Researcher Distribution Agreement and sign the joinder agreement. After this step, you will obtain access to phenotype data.
  • To access special SFARI resources (biospecimens, or genetic or imaging data, or to recruit participants), click on the "request special SFARI resources" tab and provide your research project details in an application.
  • All SFARI-funded investigators and all investigators using SFARI resources must adhere to the guidelines outlined in our Acknowledgment Policy.

If you have questions or issues during this process, please contact collections@sfari.org.

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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