Autism Sequencing Consortium (ASC)

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:
  • Autism_Wiki
• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
  • Parent-Offspring Trios
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 12772
• Subject Sample Telemetry Report (SSTR)

• PubMed

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

• Primary Phenotype: Autistic Disorder

• Principal Investigators
  • Mark Daly, PhD. The Broad Institute, MA, USA.
  • Joseph D Buxbaum, PhD. Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Bernie Devlin, PhD. University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Kathryn Roeder, PhD. Carnegie Mellon University, Pittsburg, PA, USA.
  • Matthew State, MD, PhD. University of California, San Francisco, CA, USA.
  • Stephan Sanders, PhD. University of California, San Francisco, CA, USA.
• Institutes
  • National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
• Funding Sources
  • 1RO1MH089208-01. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH100233,. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH100209. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH100229. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH100239. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH111661. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH111660. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH111658. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • U01MH111662. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
  • UM1HG008895. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • 5U54HG003067-13. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.