Project Detail
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Office of Autism Research Coordination (OARC) logo

Population genetics to improve homozygosity mapping and mapping in admixed groups  

This is an individual National Research Service Award for post-doctoral research training, which provides support for promising Fellowship Applicants with the potential to become productive, independent investigators in scientific health-related research fields. Population genetics is a crucial tool for facilitating medical genetics and disease gene mapping studies. This proposal includes two novel population genetic techniques that each facilitate disease gene mapping in different ways. First, a probabilistic technique for detecting the proportion of homozygosity (having two identical alleles of the same gene) an individual is likely to have based on single nucleotide polymorphism (SNP) microarray data will be used. This method is useful for prioritizing disease case sample individuals for whole genome sequencing and subsequent homozygosity mapping to identify recessive disease genes. This scheme will be applied to a dataset of individuals with autism to identify individuals that will be the best candidates to resequence their genes and perform homozygosity mapping to locate recessive disease genes. The second part of the project will develop methods to permit combined admixture mapping and genome-wide association (GWA) of Latinos, a population for which current admixture mapping methods fail. This will be applied to study the genetics of type 2 diabetes, a disease with higher prevalence among Latinos. The technology developed through these two methods will be applicable to a variety of disease gene mapping studies. Project Status


Funder National Institutes of Health
Fiscal Year Funding $45,590.00
Current Award Period 2010-2013
Project Number 1F32HG005944-01
Principal Investigator Williams, Amy
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
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.
Federal or Private? Federal
Institution Harvard Medical School
State/Country Massachusetts
Web Link 1 Population genetics to improve homozygosity mapping and mapping in admixed groups (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A