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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

Integrating large scale whole exome data with whole genome data

Principal Investigator

Principal Investigator

Buxbaum, Joseph

Description

Description

A proportion of risk for autism spectrum disorder (ASD) resides in rare genetic coding variants, which include single nucleotide variation, indels and structural variation, including copy number variants and dosage-neutral balanced structural variation. Analyses of whole-exome sequencing (WES) data from the Simons Simplex Collection (SSC), the Autism Sequencing Consortium (ASC) and other cohorts have demonstrated that key information resides in de novo sequence variation. Information about inherited rare variation can also be gleaned, albeit to a lesser extent than that conveyed by de novo mutation, with intermediate information from case-control variation (which includes both inherited and de novo variation). Non-coding variation is an area that has been relatively unexplored. Joseph Buxbaum at the Icahn School of Medicine at Mount Sinai, Michael Talkowski at Massachusetts General Hospital and Xin He at the University of Chicago will lead an ASC work group that plans to analyze whole-genome sequence (WGS) data from SSC quads and integrate this with ASC data (currently 22,000 ASD-related exomes, including WES data from the SSC). They propose to enhance approaches to: (a) analyze WGS data and (b) incorporate WGS and WES data into gene discovery, ultimately expanding our knowledge of genes and variants implicated in ASD. The researchers will carry out comprehensive analysis of genetic variation from SSC WGS data and emerging long-read technologies. They plan to make use of this data together with ASC exome data to (1) refine and implement their existing genetic risk likelihood model called TADA (Transmitted and De novo Association)1 for interpreting WGS data and (2) identify additional ASD-associated genes and gene variants. References: 1. He X. et al. PLOS Genet. 9, e1003671 (2013) PubMed

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2015-2017

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

Integrating large scale whole exome data with whole genome data (External web link)

Institution

Institution

ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI

State/Country

State/Country

New York

Project Number

Project Number

385027

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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