Tag: whole-exome sequencing

SFARI held its thirteenth science meeting April 8–12, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and system-level mechanisms, and clinical studies. In addition to keynote and session presentations, two panels convened investigators to discuss the current state of autism genetics research and the biology of SCN2A, a high-confidence autism risk gene.

On April 10, 2018, SFARI held a workshop to discuss online platforms for visualizing and analyzing SFARI genomics data. These platforms included the Genotypes and Phenotypes in Families web interface, created by SFARI Investigator Ivan Iossifov’s team, and Hub.iobio, which is currently being developed by Frameshift.

SFARI announces that a new article summarizing the first year’s activities of SPARK — a SFARI-funded study that aims to recruit, engage and retain 50,000 individuals with autism spectrum disorder (ASD) and their family members — was published in the journal Neuron.

SPARK (Simons Foundation Powering Autism Research for Knowledge) is pleased to announce that whole-exome sequencing (WES) and genotyping data are available for 1,369 and 1,398 individuals, respectively.