The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that Simons Searchlight has released new data for use in research studies. Approved investigators can request the data via SFARI Base.
Copy number variants (CNVs)
- 38 carriers of the 15q11.2 BP1-BP2 deletion
- 9 carriers of the 15q13.3 deletion
- 332 carriers of the 16p11.2 deletion
- 54 carriers of the 16p11.2 distal deletion
- 226 carriers of the 16p11.2 duplication
- 20 carriers of the 16p11.2 distal duplication
- 8 carriers of the 16p12.1 deletion
- 6 carriers of the 17q12 duplication
- 93 carriers of the 1q21.1 deletion
- 110 carriers of the 1q21.1 duplication
- 8 carriers of the 2p16.3 deletion
- 25 carriers of the 7q11.23 duplication
Single genes
- 31 individuals with ADNP mutations
- 10 individuals with ANK2 mutations
- 27 individuals with ANKRD11 mutations
- 22 individuals with ARID1B mutations
- 9 individuals with ASH1L mutations
- 75 individuals with ASXL3 mutations
- 15 individuals with AUTS2 mutations
- 5 individuals with BRSK2 mutations
- 44 individuals with CHAMP1 mutations
- 15 individuals with CHD2 mutations
- 6 individuals with CHD3 mutations
- 22 individuals with CHD8 mutations
- 16 individuals with CLCN4 mutations
- 9 individuals with CSDE1 mutations
- 74 individuals with CSNK2A1 mutations
- 17 individuals with CSNK2B mutations
- 5 individuals with CTBP1 mutations
- 142 individuals with CTNNB1 mutations
- 12 individuals with CUL3 mutations
- 8 individuals with DDX3X mutations
- 10 individuals with DEAF1 mutations
- 26 individuals with DLG4 mutations
- 9 individuals with DNMT3A mutations
- 6 individuals with DYNC1H1 mutations
- 47 individuals with DYRK1A mutations
- 11 individuals with EHMT1 mutations
- 6 individuals EIF3F mutations
- 17 individuals with FOXP1 mutations
- 5 individuals with GIGYF1 mutations
- 13 individuals with GRIN1 mutations
- 11 individuals with GRIN2A mutations
- 92 individuals with GRIN2B mutations
- 9 individuals with HECW2 mutations
- 40 individuals with HIVEP2 mutations
- 43 individuals with HNRNPH2 mutations
- 7 individuals with HNRNPU mutations
- 15 individuals with IRF2BPL mutations
- 10 individuals with KDM5B mutations
- 14 individuals with KDM6B mutations
- 11 individuals with KMT2C mutations
- 8 individuals with KMT2E mutations
- 11 individuals with KMT5B mutations
- 7 individuals with MBD5 mutations
- 12 individuals with MED13 mutations
- 84 individuals with MED13L mutations
- 11 individuals with MEF2C mutations
- 9 individuals with MYT1L mutations
- 7 individuals with NEXMIF mutations
- 8 individuals with NR4A2 mutations
- 6 individuals with NRXN1 mutations
- 34 individuals with PACS1 mutations
- 15 individuals with PPP2R1A mutations
- 130 individuals with PPP2R5D mutations
- 14 individuals with PPP3CA mutations
- 11 individuals with PTCHD1 mutations
- 7 individuals with SCN1A mutations
- 5 individuals with SCN1B mutations
- 199 individuals with SCN2A mutations
- 59 individuals with SETBP1 mutations
- 16 individuals with SETD5 mutations
- 7 individuals with SIN3A mutations
- 114 individuals with SLC6A1 mutations
- 5 individuals with SMARCA4 mutations
- 5 individuals with SMARCC2 mutations
- 5 individuals with SOX5 mutations
- 187 individuals with STXBP1 mutations
- 86 individuals with SYNGAP1 mutations
- 16 individuals with TANC2 mutations
- 10 individuals with TAOK1 mutations
- 17 individuals with TBR1 mutations
- 7 individuals with TCF20 mutations
- 7 individuals with TLK2 mutations
- 11 individuals with TRIO mutations
- 19 individuals with TRIP12 mutations
- 5 individuals with UPF3B mutations
- 8 individuals with USP9X mutations
- 21 individuals with VPS13B mutations
- 6 individuals with WAC mutations
- 15 individuals with WDFY3 mutations
Detailed medical, developmental and behavioral data collected through online surveys and phone interviews are available. In addition, biospecimens are available from participants who have contributed blood samples.
Some highlights of this release include
- Updated summary data files for the Medical History Interview, Previous Diagnosis Interview
and Seizure History Survey - 836 new Vineland-3 records
- 1,190 new QI-Disability records
- Revised lab results file including variant information and revised variant classifications
- Updated developmental milestone data, including mobility and communication
- Longitudinal seizure survey data, aligned with the Rare Epilepsy Network
To see a complete list of the measures available and the corresponding number of individuals with each genetic disorder for each measure, please click here.
Who can use the data?
The data are available for use by all approved researchers, regardless of SFARI funding. Research projects are not restricted to autism or other neurodevelopmental conditions. There is a six-month embargo on the genomic data, but there is no embargo on phenotypic data.
How can the data be accessed?
Researchers can log in to SFARI Base and apply to use the data. The application will be reviewed by SFARI staff, and once approved, researchers will be provided with information on how to download the data.
Researchers who have previously applied and been approved to access SPARK phenotypic data (i.e., from an earlier SPARK data release) will automatically have access to this latest data release. Simply log in to SFARI Base to view and download the latest data set.
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