Simons Simplex Collection
SSC family participants
The Simons Simplex Collection (SSC) is a core project and resource of the Simons Foundation Autism Research Initiative (SFARI). The SSC achieved its primary goal to establish a permanent repository of genetic samples from 2,600 simplex families, each of which has one child affected with an autism spectrum disorder, and unaffected parents and siblings.
Each genetic sample has an associated collection of data that provides a precise characterization, or phenotype, of the individual. Rigorous phenotyping maximizes the value of the resource for a wide variety of future research projects on the causes and mechanisms of autism. Roughly 1,500 families are available for recontacting for additional research projects via a registry called the Simons Simplex Community at the Interactive Autism Network ([email protected]).
The SSC was operated by SFARI in collaboration with 12 university-affiliated research clinics. The clinics identified and assessed potential SSC participants, with guidance from the University of Michigan Autism and Communication Disorders Center, to ensure uniformity across clinics. Active enrollment of participants ended in 2011.
Previous pioneering efforts to collect genetic samples focused on families that include multiple individuals with autism, most notably the Autism Genetic Resource Exchange, an ongoing effort to identify these so-called ‘multiplex’ families. The SSC differs from those efforts in its focus on simplex families, and in its clinic-based assessment and diagnosis.
- The collaborating institutions and investigators are listed here: SSC sites and SSC investigators.
- Blood samples were processed into cell lines and DNA was extracted at the Rutgers University Cell and DNA Repository in New Jersey. Stored samples are available to approved researchers on a modest fee-for-use basis, through a Web interface called SFARI Base.
- Data are collected and managed using software developed by Prometheus Research, LLC. A central database characterizing all of the study participants (with identifying information removed) is available to any qualified researcher through SFARI Base.
- A subset of approximately 1,500 families is enrolled in a registry at [email protected] and is available for recontacting for additional research projects. Qualified researchers may apply via SFARI Base for consideration to access the families. The Recruitment Process Document provides answers to many frequently asked questions.
All SSC data are available by request after logging into SFARI Base.
SSC genetic data and gene-expression data analyzed in the following publications are also available via the NIH’s National Database of Autism Research (NDAR) or NCBI's Gene Expression Omnibus (GEO):
Array-based comparative genomic hybridization (CGH) data
Single nucleotide polymorphism (SNP) genotype data
Whole-exome sequencing data
- Sanders S.J. et al. Nature 485, 237-241 (2012) PubMed, NDAR data
- O'Roak B.J. et al. Nature 485, 246-250 (2012) , NDAR data
- Iossifov I. et al. Neuron 74, 285-299 (2012) , NDAR data
- Iossifov I. et al. Nature 515, 216-221 (2014) PubMed, NDAR data
- Krumm N. et al. Nat. Genetics 47, 582-588 (2015) PubMed, NDAR data
Whole-genome sequencing data
- Turner T. et al. Am. J. Hum. Genet. 98, 58-74 (2016) PubMed, Data available through SFARI Base (please reference accessions SFARI_SSC_WGS_P [40 quad families] and SFARI_SSC_WGS_trioP [13 trio families]), variant calls are also available in NDAR.
Gene-expression data in lymphoblastoid cell lines
DNA methylation profiling array-based data
- Whole-exome data available on WuXi NextCODE’s cloud-based database
- Whole-genome data from 540 SSC families available via SFARI Base
- Induced pluripotent stem cell lines from SSC participants
- Request data or biospecimens, and/or recontact SSC participants
- Biospecimen prices
- [email protected] home page
- SFARI Researcher Distribution Agreement (PDF)
- Read more about the SSC in the Simons Foundation 2014 Annual Report