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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 goal of this study is to bring together the power of 1) whole exome sequencing, 2) homozygosity mapping in consanguineous families, and 3) transcriptional analysis in brain tissue to identify genetic causes of autism spectrum disorders (ASD).
- Study Weblinks:
- Study Design:
- Family/Twin/Trios
- Study Type:
- Case-Control
- Parent-Offspring Trios
- Total number of consented subjects: 767
- Subject Sample Telemetry Report (SSTR)
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Request access via Authorized Access
- Authorized Access
- Publicly Available Data (Public ftp)
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Exome Sequencing Illumina Genome Analyzer II N/A N/A Whole Exome Sequencing Illumina HiSeq 2000 N/A N/A Exome Capture Agilent SureSelect DNA Capture Array N/A N/A version 2 - Study History
Version 1 of this study included whole exome sequencing data from probands and affected and unaffected family members from consanguineous and non-consanguineous families. Version 2 adds single-nucleus RNA-sequencing of post-mortem frontal cortex and cerebellum samples from individuals diagnosed with Fragile X-associated tremor/ataxia syndrome (FXTAS)
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Autism Spectrum Disorder
- Fragile X-Associated Tremor Ataxia Syndrome
- Links to Related Genes
- Links to Related Resources
- Authorized Data Access Requests
- Study Attribution
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Principal Investigator
- Christopher A. Walsh, PhD. Children's Hospital Corporation, Boston, MA, USA.
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Funding Sources
- RC2MH89952. National Institutes of Health, Bethesda, MD, USA.
- R01MH083565. National Institutes of Health, Bethesda, MD, USA.
- 178093. Simons Foundation, New York, NY, USA.
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Funding Source
- SF09. Simons Foundation, New York, NY, USA.
- Hock E. Tan and K. Lisa Yang Center for Autism Research at Harvard University. Harvard Medical School, Boston, MA, USA.
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Principal Investigator