Tag: whole-exome sequencing

SFARI spring 2018 science meeting discussed latest developments in autism research 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…

Workshop highlights online platforms for visualizing and exploring SFARI genomics data 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,…

Autism genetics: Where have we been and where are we going?

SPARK’s first year: A new paper describes goals and milestones 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…

Whole-exome sequencing of SPARK: New data release 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.

Leveraging long-term health data and exome sequencing for autism-related gene discovery