Exome sequencing data from the Simons Simplex Collection now available online

The Simons Foundation Autism Research Initiative (SFARI), in partnership with WuXi NextCODE, is now able to offer researchers direct online access to genomic data from the Simons Simplex Collection (SSC). The SSC is a unique and rigorously characterized sample of nearly 2,600 families that include one child diagnosed with autism spectrum disorder and their unaffected parents and siblings.

Whole-exome sequencing and associated phenotypic data from the SSC are accessible in real time through WuXi NextCODE’s cloud-based database. SSC data may also be analyzed alongside other public datasets to confirm new discoveries and clinical diagnoses related to autism spectrum disorders.

“We’re delighted that the SSC exome sequencing data is now available on the WuXi NextCODE Exchange,” says Alan Packer, senior scientist at SFARI. “The SSC dataset has already led to a number of important insights into genetic risk factors for autism, but we know that there is still more to be learned from it. This new platform provides the autism research community with a way to readily view and analyze the data online and is another way that SFARI can pursue its mission of accelerating discoveries in the field of autism.”

The online database’s key features include:

• Access to SFARI Gene and other autism gene and variant lists
• Instant visualization of SSC data with other major public datasets
• Raw BAM sequence reads and GATK and FreeBayes variant calls for all samples
• Histographic selectors and report builders for phenotype definition
• Import and merge functionality to incorporate external datasets

Researchers can apply for training and access to the WuXi NextCODE SSC portal here.

Researchers interested in analyzing whole-genome sequencing data from the SSC (which is not yet available through this portal) may apply via SFARI Base.

** Click here to read the press release.