Today, the Autism Speaks MSSNG program announced its largest upload and release of whole genome sequences from people affected by autism and their family members. The release includes nearly 3,000 genome sequences from participants in the Autism Speaks Autism Genetic Resource Exchange (AGRE).
This brings the total number of whole genome sequences in MSSNG to 5,211 – making it the world’s largest genomic database on autism. The new upload also puts MSSNG over the halfway mark toward its goal of sequencing more than 10,000 genomes from families affected by autism.
A collaboration between Autism Speaks and Toronto’s Hospital for Sick Children, MSSNG uses a cloud-based portal built and managed by BioTeam to make this unprecedented resource available to qualified researchers and medical geneticists worldwide.
“There’s never been a resource like this for the study of autism, with access to thousands of whole genome sequences and accompanying behavioral and medical information,” says MSSNG Project Director Stephen Scherer. “Already the research community is making use of MSSNG to define new genetic subtypes of autism that will lead to the next generation of diagnostics and treatment options.” Dr. Scherer directs the Centre for Applied Genomics at Toronto’s Hospital for Sick Children.
To date, more than 100 investigators from nine countries have been granted access to the privacy-protected database.
“The MSSNG dataset has allowed us to discover new parts of the genome involved in autism,” says MSSNG user Michael Snyder, of the Stanford Center for Genomics and Personalized Medicine. “Without any doubt, this unique resource will improve our understanding of the condition.”
“MSSNG has successfully built not just a database but a community of researchers,” adds Autism Speaks Interim Chief Science Officer Mathew Pletcher. “They are truly realizing the goal of using open science and collaboration to answer key questions about autism.”
As the program advances on its goal of sequencing 10,000 genomes, Autism Speaks seeks input from the research community on how to improve its research platform. Autism Speaks also sincerely thanks all the individuals and families who have contributed their privacy-protected information and DNA samples.
Also see “Gene mapping is now unlocking the mysteries of autism” a special report on MSSNG, now online at CNBC.com.