World’s Largest Autism Genome Database Expands
May 16, 2024

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Autism Speaks’ MSSNG database, the world’s largest autism whole-genome dataset, recently expanded to include an additional 2,489 fully sequenced genomes in the project’s cloud-based dataset. The data was processed and shared on the cloud using DNAstack's Omics AI software. Genomic data is now available for 13,801 individuals, including over 6,000 autistic people and over 7,000 of their family members.

“I am thrilled to see the continued expansion of the MSSNG database and am grateful to all of the families who have participated thus far,” says Dr. Dean Hartley, senior director of genetic discovery and translational science at Autism Speaks.

With every individual who contributes their genomic information to the MSSNG project, we come one step closer to understanding the genetics of autism and developing personalized medical treatments and supports that allow us to precisely address autistic individuals’ unique challenges.

Launched in 2015, the MSSNG database is a collaboration between Autism Speaks, The Hospital for Sick Children (SickKids), DNAstack, McGill University and Verily. To date, MSSNG is freely sharing data globally in 67 institutions across 15 countries, enabling a wave of transformational autism research studies. The data is also available on Neuroscience AI powered by DNAstack.

In recent years, researchers leveraging the MSSNG platform have identified a host of previously unknown genes linked to autism spectrum disorder (ASD). In a 2022 study, researchers from SickKids found 134 genes linked with ASD and discovered a range of genetic changes, most notably gene copy number variations (CNVs), likely to be associated with autism, including ASD-associated rare variants in about 14% of participants with autism.

Families who have participated in the MSSNG program are also seeing a real-life impact. Read two families’ stories on how participating in the MSSNG program improved their understanding of their son’s autism and helped them seek out personalized healthcare.

About DNAstack

DNAstack is a Canadian company whose mission is to improve lives by unlocking the collective power of the world’s genomics and health data. Omics AI is a software suite by DNAstack that enables privacy-preserving federated insights across distributed data. DNAstack is a global leader in the development of open, interoperable standards as part of the Global Alliance for Genomics & Health (GA4GH).

About Autism Speaks

Autism Speaks is dedicated to promoting solutions, across the spectrum and throughout the life span for the needs of individuals with autism and their families. We do this through advocacy and support; increasing understanding and acceptance of people with autism; and advancing research into causes and better interventions for autism spectrum disorder and related conditions. For more information visit