The SFARI Gene website has been redesigned. The updated platform features a streamlined user interface and new data visualizations, which were engineered with the aim of making it easier for users to find the latest information about genes implicated in autism susceptibility.
Whole-genome sequencing data for a total of 8,975 genomes from the Simons Simplex Collection are now available. This includes 2,174 genomes that have been available since August 2016 (and whose data have now been reprocessed using a new computational pipeline) in addition to 6,801 new genomes.
New Simons VIP Phase 2 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, and mutations in the following single genes: SCN2A, GRIN2B, PACS1, PPP2R5D, ADNP, MED13L, STXBP1, HIVEP2 and SYNGAP1.