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New Simons VIP Phase 2 data were recently added to SFARI Base. This data release included data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs and mutations in the following single genes: ADNP, ASXL3, DYRK1A, FOXP1, GRIN2B, HIVEP2, MED13L, PACS1, PPP2R5D, SCN2A, SETBP1, STXBP1 and SYNGAP1.
New Simons VIP Phase 2 data were added to SFARI Base in January 2018. A summary of the available data is listed below.
Copy number variants:
Single genes:
Data from the following individuals with mutations in single genes (all enrolled in the Phase 2 study) are now available:
Detailed medical history, phenotyping data and biospecimens (collected via clinical site visits) are available for families enrolled in Phase 1 of Simons VIP.
Medical, developmental and behavioral information (collected through online surveys and phone interviews with families) is available for families enrolled in Phase 2. In addition, biospecimens have been collected from some Phase 2 participants. Enrollment in Simons VIP Phase 2 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.
