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

Project Title

Project Title

Genome Sequencing pilot of Simons Simplex Collection

Principal Investigator

Principal Investigator

Eichler, Evan

Description

Description

Evan Eichler and his colleagues at the University of Washington aim to perform the systematic discovery of single nucleotide variations (SNVs), insertions and deletions in DNA (indels) and structural variations within 160 genomes from 40 families in the Simons Simplex Collection (SSC). The researchers selected families that have available DNA from both parents as well as one child with autism and one unaffected sibling. They selected individuals with autism in whom no obvious candidate mutation has been discovered by the sequencing of exomes — the coding portions of genomes — or analysis of copy number variations, which are deletions or duplications of large DNA segments. The researchers aim to focus on validating all spontaneous, or de novo, genetic variation and publicly disseminating all data, including on inherited mutations. They plan to process data using a hybrid computational annotation model that entails the calling of SNVs, indels and CNVs. They will use an intersection of more routine genetic callers as well as more computational-intensive approaches, developed in the Eichler laboratory, that increase sensitivity for variant detection in complex regions of the genome. They aim to validate all de novo variants using a well-established protocol for targeting small segments of DNA (molecular inversion probes) for SNVs and indels, and a longstanding technique for measuring copy number by the intensity of probes in specific regions of the genome (array comparative genomic hybridization). The team plans to publicly disseminate data via the National Database for Autism Research using standards previously established for the SSC exome-sequencing project.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

100643

Current Award Period

Current Award Period

2014-2015

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

Genome Sequencing pilot of Simons Simplex Collection (External web link)

Institution

Institution

University of Washington

State/Country

State/Country

Washington

Project Number

Project Number

336475

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Genome Sequencing pilot of Simons Simplex Collection | 0 | 2015 | 336475

 
Back to Top