Simons Variation in Individuals Project (Simons VIP): New data now available

August 25, 2016

New Simons VIP data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, GRIN2B mutations and SCN2A mutations (all enrolled in the Phase 2 study). New genetic data (single nucleotide polymorphism microarray data and molecular inversion probe sequencing data) are available for many of the 16p11.2 CNV families enrolled in Phase 1.

Autism Research Initiative (SFARI)

A family of five sits on a blue couch, smiling. Two adults are behind three young girls, who are sitting in front, all facing the camera against a plain light background. — Simons VIP family participants Simons VIP family participants

New Simons VIP data were added to SFARI Base in July. Some of the highlights of this data release include:

Data from an additional 30 carriers of the 16p11.2 deletion and 6 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 167 and 133, respectively.
Data from an additional 13 carriers of the 1q21.1 deletion and 2 carriers of the duplication (all enrolled in Phase 2) 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 36 and 29, respectively.
Data from seven individuals with mutations in GRIN2B (enrolled in Phase 2) are now available.
Data from 11 individuals with mutations in SCN2A (enrolled in Phase 2) are now available.

Notes:

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 are available for 78 carriers of the 16p11.2 deletion and 70 carriers of the 16p11.2 duplication.

Publications resulting from Simons VIP data are available here.
47 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 call 855-329-5638 for more information.