New Simons Searchlight data were added to SFARI Base in August 2019.
Data from the following individuals are now available to approved researchers.
Copy number variants (CNVs):
- 289 carriers of the 16p11.2 deletion (137 of these individuals were enrolled in Phase 1)
- 192 carriers of the 16p11.2 duplication (127 of these individuals were enrolled in Phase 1)
- 66 carriers of the 1q21.1 deletion (23 of these individuals were enrolled in Phase 1)
- 73 carriers of the 1q21.1 duplication (27 of these individuals were enrolled in Phase 1)
- 21 individuals with ADNP mutations
- 8 individuals with ANKRD11 mutations
- 49 individuals with ASXL3 mutations
- 17 individuals with CHAMP1 mutations
- 5 individuals with CHD2 mutations
- 6 individuals with CHD8 mutations
- 16 individuals with CSNK2A1 mutations
- 6 individuals with CTNNB1 mutations
- 24 individuals with DYRK1A mutations
- 7 individuals with FOXP1 mutations
- 46 individuals with GRIN2B mutations
- 17 individuals with HIVEP2 mutations
- 17 individuals with HNRNPH2 mutations
- 26 individuals with MED13L mutations
- 23 individuals with PACS1 mutations
- 59 individuals with PPP2R5D mutations
- 5 individuals with PTCHD1 mutations
- 103 individuals with SCN2A mutations
- 20 individuals with SETBP1 mutations
- 57 individuals with STXBP1 mutations
- 32 individuals with SYNGAP1 mutations
Detailed medical history, phenotyping data and biospecimens (collected via clinical site visits) are available for families enrolled in Phase 1.
Medical, developmental and behavioral information (collected through online surveys and phone interviews with families) is available for all other families. In addition, biospecimens have been collected from some of the participants who joined after Phase 1. Enrollment in Simons Searchlight is ongoing, and additional data and biospecimens will be made available later this year.
Structural and functional magnetic resonance imaging (MRI) data and magnetoencephalography (MEG) data are available for many participants enrolled in Phase 1.
Genetic data are also available for many participants enrolled in Phase 1. Single nucleotide polymorphism (SNP) microarray data are available for 126 Phase 1 families (probands with 16p11.2 deletions/duplications, parents and siblings [if present]). Whole-exome sequencing (WES) data are available for 162 Phase 1 families (probands with 16p11.2 deletions/duplications, parents and siblings [if present]). Whole-genome sequencing (WGS) data are available for 6 carriers of the 16p11.2 deletion. Molecular inversion probe (MIP) sequencing data around the 16p11.2 rearrangement breakpoints are available for 78 carriers of the 16p11.2 deletion and 70 carriers of the 16p11.2 duplication.
- Publications resulting from Simons Searchlight data are available here (select the filter “Uses Resources From: Simons Searchlight”).
- 159 single genes and 19 CNVs associated with neurodevelopmental differences and features of autism are being studied as part of Simons Searchlight. The complete gene/CNV list is available here.
- Families interested in participating in Simons Searchlight can register online or can call (855) 329-5638 for more information.