A genome-wide assessment of noncoding risk variants in autism Olga Troyanskaya, Robert Darnell and colleagues applied deep-learning methods to whole-genome sequencing data from SSC families and identified a clear enrichment for de novo noncoding variation in ASD.
SFARI fall 2018 science meeting highlighted recent findings in autism research SFARI held its fourteenth science meeting September 30–October 2, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and system-level mechanisms, as…
SFARI Investigators elected to the National Academy of Sciences in 2019 Two SFARI Investigators are among the 100 newly elected members of the National Academy of Sciences.
SFARI presentations at INSAR 2019 SFARI Investigators and SFARI science staff will be giving a number of oral presentations at the International Society for Autism Research (INSAR) 2019 Annual Meeting in Montreal, Canada (May 1-4).
Cryptic splice mutations: A major new source of risk variants for neurodevelopmental disorders Kyle Kai-How Farh and Stephan Sanders developed a deep-learning method to predict risk mutations that affect mRNA splicing and contribute substantially to neurodevelopmental disorders.
The genetic influences on autism spectrum disorder risk