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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
The root causes of autism remain unknown, limiting efforts to understand disease heterogeneity, diagnose cases, and prevent and treat disease. Epidemiological findings have repeatedly and unequivocally determined that heritable variation in DNA plays a substantial role in the etiology of autism and autism spectrum disorders, yet traditional efforts to identify the genetic basis of this striking heritability have met with very limited success to date and have therefore provided limited insight into disease biology. We propose here an unprecedented partnership between expert large-scale sequencing centers (at the Baylor College of Medicine and the Broad Institute of MIT and Harvard) 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 will work together to utilize dramatic new advances in DNA sequencing technology to reveal the genetic architecture of autism, first through a comprehensive examination of the exonic sequence of all genes (that is, the coding part of the genome). The goal is to conclusively identify which genes harbor individual or collections of rare DNA variants that predispose to autism, and thus translate the abstract heritability into solid biological clues about disease pathogenesis that can be studied molecularly and approached therapeutically. These efforts and their follow-up, which will be performed on thousands of autism families collected by the autism research groups and being provided with phenotype data to NIMH repositories, will form the cornerstone of autism genetic research going forward.
- Study Weblinks:
- Study Design:
- Case-Control
- Study Type:
- Case-Control
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 2441
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Study Inclusion/Exclusion Criteria
Inclusion:
Cases: Autism or Autism spectrum disorder, GWAS data availability, European decent
Controls: European decent (matched to cases)- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment 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)
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- Primary Phenotype: Autistic Disorder
- Authorized Data Access Requests
- Study Attribution
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Principal Investigator
- Mark Daly, PhD. Broad Institute, Cambridge, MA, USA.
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Institutes
- National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
- National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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Funding Sources
- 1RO1MH089208-01. National Institute of Mental Health and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator