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Study Description

The ARRA Autism Sequencing Collaboration was created in 2010 bringing together expert large-scale sequencing center (at the Baylor College of Medicine, PI Richard Gibbs and the Board Institute of MIT and Harvard, PI Mark J. Daly) and a collaborative network of research labs focused on the genetics of autism (brought together by the Autism Genome Project and the Autism Consortium). These groups worked together to utilize dramatic new advances in DNA sequencing technology to reveal the genetic architecture of autism through comprehensive examination of the exotic sequence of all genes. The Autism Sequencing Consortium (ASC) was founded by Joseph D. Buxbaum and colleagues as an international group of scientists who share autism spectrum disorder (ASD) samples and genetic data. The PIs are Drs. Joseph D. Buxbaum (Icahn School of Medicine at Mount Sinai), Mark J. Daly (Broad Institute of MIT and Harvard), Bernie Devlin (University of Pittsburgh School of Medicine), Kathryn Roeder (Carnegie Mellon University, Matthew State and Stephan Sanders (University of California, San Francisco). The rationale for the ASC is described in Buxbaum et al. 2012, and this paper should be cited when referencing the data set. All shared data and analysis is hosted at a single site, which enables joint analysis of large-scale data from many groups. The ASC was first supported by a cooperative agreement grant to four lead sites funded by the National Institute of Mental Health (U01MH100233, U01MH100209, U01MH100229, U01MH100239), with additional support from the National Human Genome Research Institute. The NIMH recently renewed their support with a second grant (U01MH111661, U01MH111660, U01MH111658 and U01MH111662) to expand the project from 29,000 genomes to more than 50,000 exomes over the next 5 years. NHGRI provides ongoing sequencing support for the ASD through the Broad Center for Common Disease Genomics (UM1HG008895, Mark Daly, PI).

  • Study Weblinks:
  • Study Design:
    • Case-Control
  • Study Type:
    • Case-Control
    • Parent-Offspring Trios
  • dbGaP estimated ancestry using GRAF-pop
Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Cases: Autism or Autism spectrum disorder, GWAS data availability, European decent
Controls: European decent (matched to cases)

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Sequencing Agilent Custom aCGH Array 244000 N/A ~244000 probes
Whole Exome Sequencing Applied Biosystems SOLiD N/A N/A
Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution