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, STXBP1 and SYNGAP1.
SFARI announces the launch of HumanBase, a Simons Foundation interactive web server for predictions and information about human genes, pathways and disorders.
Autism’s Genetic Architecture Comes Into Focus An unparalleled gene-sequencing study of autism families has identified dozens of high-confidence autism genes, and hundreds more worthy of study.
Simons Simplex Collection Data to be Hosted on NextCODE Exchange NextCODE allows users to access online datasets at full resolution without sending big files, enabling them to use the full power of next-generation sequencing data to better diagnose and treat disease.
SFARI Annual Meeting Held at Foundation SFARI held its sixth annual meeting, bringing together some 150 SFARI-supported autism researchers in an effort to advance the understanding of autism, improve its diagnosis and better the experience of those on the autism spectrum.
SFARI hosts Simons VIP Connect 2014 family gathering The meeting brought together families with a child carrying deletions or duplications in chromosomal region 16p11.2 and researchers studying 16p11.2.