Home > Updates and Events > SFARI News > 2017 > Simons Variation in Individuals Project (Simons VIP): New data release

Simons Variation in Individuals Project (Simons VIP): New data release

20 January 2017

Simons VIP family participants

New Simons VIP Phase 2 data were added to SFARI Base in November 2016. A summary of the available data is listed below.

    • Data from 91 carriers of the 16p11.2 deletion and 54 carriers of the duplication (all enrolled in the Phase 2 study) are now available. This brings the total number of 16p11.2 deletion and duplication families enrolled in Simons VIP (Phases 1 and 2 combined) to 187 and 143, respectively.
    • Data from 26 carriers of the 1q21.1 deletion and 15 carriers of the duplication (all enrolled in the Phase 2 study) are now available. This brings the total number of 1q21.1 deletion and duplication families enrolled in Simons VIP (Phases 1 and 2 combined) to 45 and 35, respectively.
    • Data from 37 individuals with mutations in SCN2A (enrolled in Phase 2) are now available.
    • Data from 17 individuals with mutations in GRIN2B (enrolled in Phase 2) are now available.
    • Data from 6 individuals with mutations in ADNP (enrolled in Phase 2) are now available.
    • Data from 5 individuals with mutations in HIVEP2 (enrolled in Phase 2) 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.

Additional information

  • Publications resulting from Simons VIP data are available here.
  • 49 single genes associated with neurodevelopmental differences and features of autism are being studied as part of Phase 2. The complete gene list is available here.
  • Families interested in participating in the Phase 2 study can register online at Simons VIP Connect or can call (855) 329-5638 for more information.