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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

Framework for genetic variants in phenotype rich family collections

Principal Investigator

Principal Investigator

Iossifov, Ivan

Description

Description

Ivan Iossifov studies the genetics of autism using the large datasets produced with comparative genomic hybridization, whole-exome and whole-genome sequencing of the extensively phenotyped Simons Simplex Collection1. Using these datasets, Iossifov and his colleagues have demonstrated the substantial role of de novo mutations in the form of large copy number variants, likely gene-disrupting and missense variants in the etiology of sporadic cases of low-functioning autism. Almost 40 percent of such cases could be explained by de novo mutations. But the genetics of the remaining low-functioning and high-functioning individuals with autism is still unclear and the answers for these cases may lie in the much more numerous inherited coding variants or in variants in the noncoding regions of the human genome. To facilitate subsequent functional studies of the identified de novo mutations and the analysis of the large number of inherited variants by the wider scientific community, Iossifov is developing a system that would allow qualified researchers to readily access the underlying database of genetic variants and phenotypic attributes of family collections through an intuitive web interface. References: 1. Iossifov I. et al. Nature 515, 216-221 (2014) PubMed

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

62500

Current Award Period

Current Award Period

2015-2016

Strategic Plan Question

Strategic Plan Question

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 7E. Begin development of a web-based toolbox to assist researchers in effectively and responsibly disseminating their finding to the community, including people with ASD, their families, and health practitioners, by 2011. IACC Recommended Budget: $400,000 over 2 years.

Project Link

Project Link

Framework for genetic variants in phenotype rich family collections (External web link)

Institution

Institution

Cold Spring Harbor Laboratory

State/Country

State/Country

New York

Project Number

Project Number

362665

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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