Seung Hoan Choi
Research Fellow, Broad Institute
1 active project
Rare_genetic_variations_in_a_diverse_population
Scientific Questions Being Studied
The All Of Us project utilizes large-scale whole-genome sequencing data, which will provide a unique opportunity to identify the comprehensive genetic basis of common and rare protein-coding genetic variation linked to disease risk.
Project Purpose(s)
- Ancestry
Scientific Approaches
The whole-genome regression will be implemented to account for the relatedness among study samples using Regenie. The model will adjust the fixed effects of age, sex, and associated principal components. The common variant analyses will assume an additive genetic model per variant, and rare variant analyses will calculate the burden of rare loss-of-function variants in a gene.
Anticipated Findings
We anticipate observing novel associations from rare variant analyses. Specially, we expect to identify ancestry specific association from AoU genetic data.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled TierResearch Team
Owner:
- Seung Hoan Choi - Research Fellow, Broad Institute
- Patrick Ellinor - Mid-career Tenured Researcher, The Broad Institute
Collaborators:
- Xin Wang - Project Personnel, Mass General Brigham
- James Pirruccello - Early Career Tenure-track Researcher, Mass General Brigham
- Jennifer Halford - Research Fellow, The Broad Institute
Request a Review of this Research Project
You can request that the All of Us Resource Access Board (RAB) review a research purpose description if you have concerns that this research project may stigmatize All of Us participants or violate the Data User Code of Conduct in some other way. To request a review, you must fill in a form, which you can access by selecting ‘request a review’ below.
