Sharmila Banerjee-Basu, founder and chief scientific officer at MindSpec Inc., discusses SFARI Gene and how it is changing the face of autism genetics research.

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.

This issue of the SFARI newsletter includes: (1) 2017 Bridge to Independence Award request for applications, (2) Application process for recruiting SPARK participants into new research studies is now open, (3) A SFARI channel on bioRxiv, (4) A Conversation with SFARI Bridge to Independence Investigator Sung Han, (5) SFARI-funded publications, (6) Past lecture: Jeremy Veenstra-Vanderweele, “Potholes and progress on the road to translational treatments in autism spectrum disorder”.

SFARI Investigator Sung Han discusses his lab’s work and how the Bridge to Independence Award helped him launch his independent career in autism research.

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.