NextCODE, Simons Foundation to speed autism research with real-time access to 10,000 exomes

-- The NextCODE Exchange will host the Simons Simplex Collection, so approved users can query one of the major sequence datasets in this field – online, at full resolution, without sending big files

CAMBRIDGE, Massachusetts and NEW YORK, Oct. 19, 2014 /PRNewswire/ -- NextCODE Health and the Simons Foundation today announced a partnership under which the Simons Simplex Collection (SSC) will be hosted on the NextCODE Exchange and made accessible in real time to approved researchers around the world.

The SSC, which comprises genomic sequence and detailed phenotypic data from nearly 2,600 families, is a major global resource for research into the roots of autism spectrum disorders and one of the largest single collections of sequence data anywhere. The Exchange, launched today, uses a unique genomic data architecture to enable clinicians and scientists to analyze massive sequence data and then instantly collaborate and validate their findings with colleagues at raw read resolution.

"We're delighted to have the opportunity to make SSC exome sequencing data available on the NextCODE Exchange," said Alan Packer, Senior Scientist at SFARI. "Early analyses of this rich dataset have been very informative, but we know that there is a great deal more still to be learned from it. Providing the SSC data to the broader autism research community in this format is another way SFARI can pursue its mission of driving rapid scientific progress in the field of autism."

"We are both pleased and proud to be hosting the SSC on the NextCODE Exchange. The Simons Foundation is a pioneer in assembling large-scale sequence and in making it available to the autism research community to use. Our aim is to use the Exchange to make the SSC even more accessible and valuable, enabling even more scientists to use it and so to accelerate discovery while saving on the time and expense of having to copy and send raw sequence," said Jeffrey Gulcher, MD, PhD, president, chief scientific officer and co-founder of NextCODE.

NextCODE puts the world's most proven sequence analysis platform in the hands of clinicians and researchers around the globe, enabling them to use the full power of NGS data to better diagnose and treat disease. Our solutions combine the only whole-genome analysis system developed at population scale with access to the largest clinical genetics reference database in the world. That gives our partners the ability to solve more cases more efficiently, to store, analyze, visualize and collaborate using all their data – at base-by-base resolution, in real time, from any browser. NextCODE is a private company headquartered in Cambridge, Massachusetts. Visit us on the web at nextcode.com.

The Simons Simplex Collection (SSC) is a unique, rigorously characterized data collection designed to support the discovery of rare, de novo genetic events that increase risk of developing autism spectrum disorders. The collection consists of 2,600 'simplex' families, all of which have one child with autism, unaffected parents, and usually at least one unaffected sibling. SSC biospecimens and phenotypic and genetic data are available to approved researchers via SFARI Base or by emailing [email protected]. Sequencing of SSC data has already yielded 100 candidate genes for autism.

The SSC is supported by SFARI (Simons Foundation Autism Research Initiative), whose mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.

SOURCE NextCODE Health