Patrick Ellinor

Mid-career Tenured Researcher, The Broad Institute

1 active project

Rare_genetic_variations_in_a_diverse_population

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.

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 Tier

Research Team

Owner:

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
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