Autism Speaks Releases Updated Collection of Whole-Genome Sequence Data

The latest release of the Autism Speaks' MSSNG resource, a collection of sequenced whole genomes of people with autism spectrum disorder (ASD) and their family members, is presented in Cell this week. The dataset now contains 11,312 individuals including 5,100 people with ASD — more than twice what was in the previous release. It also features expanded genetic variant data, a redesigned web portal allowing the exploration of genotype and phenotype data, and integration with the Terra cloud platform, among other enhancements. Members of Autism Speaks who contributed to the resource describe using the data to comprehensively examine the roles of many types of genetic variations in ASD. They also leverage data in the Simons Simplex Collection, a collection of genetic samples from people with ASD and their families, to help uncover ASD-associated structural variants. "Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the 85 [percent] of the ASD population that remain idiopathic," the researchers write.