Autism Speaks releases newest MSSNG database

World’s largest autism whole-genome database releases over 11,000 sequences and new research tools

October 16, 2019
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Media Contacts:
Aurelia Grayson: aurelia.grayson@autismspeaks.org
Adrienne Cornwall: adrienne.cornwall@autismspeaks.org

NEW YORK (Oct. 16, 2019) – Autism Speaks’ groundbreaking MSSNG project today released an autism dataset with more than 11,000 whole genomes of individuals with autism and their family members in its sixth dataset expansion. MSSNG is the world’s largest open-source whole-genome database specific to autism.

“The MSSNG platform continues to grow and offer more tools for researchers to better understand the genetics of autism,” said Thomas Frazier, Ph.D., chief science officer for Autism Speaks. “With this release more sequences and new functionality, we can enable researchers to identify genetic influences on autism that could lead to tailored medical care for people with autism.”

The newest dataset, called DB6, features more than 11,300 whole genome sequences (WGS) of people with autism and their family members, more than 50 percent more genomes than the previous DB5 dataset.

The MSSNG database was first launched in 2015 as a collaboration with Google and The Hospital for Sick Children (SickKids) in Toronto, where the genome sequencing is conducted. To date, MSSNG’s cloud-based computing system is securely sharing de-identified data across 62 institutions in 18 different countries. MSSNG studies have identified 18 previously unknown autism risk genes that include de novo mutations, as well as changes in non-gene encoding regions.

“Data sharing helps accelerate discovery, therefore we are excited to now see the release of the next iteration of MSSNG,” said Dean Hartley, senior director of genomic discovery at Autism Speaks. “In addition to the significant increase in the size of MSSNG, new technical tools will be available to analyze this growing dataset on a free, secure, open platform that will help us learn faster and speed up the delivery of personalized medicine.”

MSSNG has grown through the collaboration of our critical partners. The cloud and genomic engineering have been greatly advanced by partners Verily and DNAstack, who support the cutting-edge technology of the MSSNG research platform. DNAstack has developed new standards and technologies to streamline access, discovery, and computability on the cloud for this database release. Verily has continued its contribution to data analysis and exploration, including making genomic exploration code available for researchers.

“Autism Speaks is changing the face of autism research through open science,” said Marc Fiume, CEO and Co-Founder of DNAstack. “With the launch of DB6, autism researchers around the world can discover, access, and analyze a large and integrated dataset using advanced tools for collaborative biomedical research.”

This latest dataset release features integration of genotypic and phenotypic data, standardization of measures to align with global standards, new search functions to simplify finding genes relevant to research questions, and tiered access that allows more researchers to query the dataset.

Researchers can securely access multiple large datasets from the MSSNG interface with the ability to perform basic queries for genetic variations as well as advanced queries that filter based on variables like gender and inheritance.

MSSNG’s DB6 is also available on the Beacon Network, a global search engine for finding genetic variations, allowing autism researchers as well as scientists from other disciplines to find ways to collaborate and bring new insights into the field.

The MSSNG project is made possible by the ongoing support of individual donors and foundations, whose generosity has been a catalyst for achieving a greater understanding of autism.

To apply for access to MSSNG, visit www.mss.ng or please contact dean.hartley@autismspeaks.org.

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