NEW YORK (GenomeWeb) – The Simons Simplex Collection of genomic data from autism spectrum patients and their families is now available through WuXi NextCode's cloud-based database.
Sequencing and associated phenotypic data from a cohort of some 2,600 families with one child with autism spectrum disorder, their unaffected parents, and unaffected siblings is accessible via WuXi NextCode's Exchange, according to the Simons Foundation and the genomic information company WuXi NextCode. The cohort also includes data on more than 2,000 phenotypic variables.
"The SSC was conceived and has succeeded as a large-scale, open-access discovery engine," Louis Reichardt, director of the Simons Foundation Autism Research Initiative, said in a statement. "We are excited to be partnering with WuXi NextCode to realize the next phase in the SSC's potential by making it directly accessible to the autism community worldwide."
NextCode Heath and the Simons Foundation Autism Research Initiative initially partnered to bring this collection online in 2014, and NextCode was purchased by WuXi PharmaTech in early 2015.
According to the partners, the WuXi NextCode platform enables researchers to use an online suite of analysis tools, allowing them to interrogate individual genomes, genomes from certain families, or the collection as a whole using an integrated collection of tools. Researchers can also examine the GATK and FreeBayes variant calls for the cohort as well as visualize the findings on a background of normalized global reference data. They also have access to major public reference datasets and ASD gene and variant lists.
The data is all stored within a DNANexus-powered, HIPAA-compliant cloud, according to WuXi NextCode.
Users can apply for training and access to the database by contacting WuXi NextCode or the Simons Foundation.