Autism Sequencing Consortium exome analysis

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Founded in 2010, the Autism Sequencing Consortium (ASC) is an international group of scientists who share autism spectrum disorder (ASD) samples and genetic data. This portal displays variant and gene-level data from the most recent ASC exome sequencing analysis. The analysis draws from de novo variants called in family-based data consisting of 6,430 probands with ASD and 2,179 unaffected siblings as well as rare variants called in 5,556 ASD cases and 8,809 ancestry-matched controls. The family-based data includes the Simons Simplex Collection, while a substantial portion of the case-control data is from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) in Denmark. A Bayesian model called TADA is used to integrate the different types of data and associate specific genes with ASD.

This effort has been funded by the National Institute of Mental Health (NIMH), with additional contributing support from the National Human Genome Research Institute (NHGRI), the Simons Foundation, the Stanley Foundation, the Seaver Foundation, the Autism Science Foundation, and the Lundbeck Foundation, in addition to other organizations.