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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

1/3-Sequencing autism spectrum disorder extended pedigrees

Principal Investigator

Principal Investigator

Coon, Hilary

Description

Description

Utilizing a unique resource of extended pedigrees with autism spectrum disorder (ASD), investigators will sequence family members from the most informative pedigrees to study genetic variation contributing to ASD and related phenotypes. Researchers will aim to discover new variation, and also use the resource to characterize variants in conjunction with existing whole exome data. Findings will be tested in up to 10 other families available from the Autism Genome Project (AGP). Extended families offer an excellent opportunity to identify and study genetic variation, giving a complementary approach to ongoing studies of simplex and small multiplex families. Sequence data in these extended families will result in highly accurate and extensive genetic information that may predict potentially deleterious variants using new informatics approaches. Results from this study will help prioritize the familial variant discovery, and select for the best for replication efforts in other AGP families. Researchers will also investigate sequence variants found by simplex/small family sequencing to determine specificity and penetrance in our extended families.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

299000

Current Award Period

Current Award Period

2012-2017

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.

Project Link

Project Link

1/3-Sequencing autism spectrum disorder extended pedigrees (External web link)

Institution

Institution

University of Utah

State/Country

State/Country

Utah

Project Number

Project Number

1R01MH094400-01A1

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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