Collecting detailed genetic data is critical for powering studies of autism as autism’s underlying genetic contributors continue to be better understood. As part of its efforts to accelerate scientific understanding of the genetics of autism, the Simons Foundation Autism Research Initiative (SFARI) announces the release of whole-genome sequencing (WGS) data for more than 45,000 individuals participating in the SPARK research study, including more than 20,000 participants diagnosed with autism.
“This is an incredibly valuable resource for the autism research community,” says Kelsey Martin, the Simons Foundation’s executive vice president of autism and neuroscience. “These data will enable much deeper exploration of autism’s genetic components, and we are excited to share them with researchers worldwide.”
Many genetic studies of autism rely on whole exome sequencing (WES), but this technique captures only genes that encode proteins, which make up just one to two percent of the genome. WGS captures the entire genome, including noncoding regulatory regions and deep intronic or splice-altering variants that are outside of the exome. These features are all potentially important contributors to autism’s genetic architecture.
“The scale and depth of this whole-genome sequencing dataset gives researchers new opportunities to investigate the genetic architecture of autism,” says Aaron Wong, the Simons Foundation’s vice president of informatics. “Just as importantly, we’ve processed the data through a standardized, open-source pipeline so researchers can build on it in a reproducible way.”
The dataset is also uniquely powerful because of the depth of information provided by SPARK.
“SPARK collects data from parents and siblings, not just those directly affected by autism, so we can study patterns in inheritance,” says Martin. “The cohort also houses extensive phenotyping data that can be paired with this genetic data to enable genotype-phenotype studies.”
The data are available to approved researchers via SFARI Base. Please contact [email protected] with any questions.
