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.
SFARI is pleased to announce that SPARK has launched its research matching program, through which researchers can apply to recruit the SPARK cohort into new research studies. Researchers can submit an application via SFARI Base.
A SFARI channel now exists on bioRxiv, one of the most used preprint servers for biology. This channel should help readers to find preprints reporting SFARI-funded research findings more quickly as well as encouraging more SFARI investigators to post preprints ahead of publication.
Updated medical, developmental and educational outcomes information on a subset of families who participated in the Simons Simplex Collection (SSC) — a total of 440 families — is now available to approved researchers via SFARI Base. Researchers may also apply via SFARI Base to re-contact this subset of families for additional research studies.
Presentations that will be given by SFARI Investigators at the 2017 International Meeting for Autism Research (IMFAR) in San Francisco (May 10-13) are highlighted.
New data were added to SFARI Gene in March 2017. This data release included updated gene scores for candidate autism risk genes, new animal models, and new copy number variant loci associated with autism.