Research Projects Directory

Research Projects Directory

14,848 active projects

This information was updated 12/26/2024

The Research Projects Directory includes information about all projects that currently exist in the Researcher Workbench to help provide transparency about how the Workbench is being used. Each project specifies whether Registered Tier or Controlled Tier data are used.

Note: Researcher Workbench users provide information about their research projects independently. Views expressed in the Research Projects Directory belong to the relevant users and do not necessarily represent those of the All of Us Research Program. Information in the Research Projects Directory is also cross-posted on AllofUs.nih.gov in compliance with the 21st Century Cures Act.

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1 project has 'Assessment of pathogenic variants across the All of Us Research Program' in the project title
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Assessment of pathogenic variants across the All of Us Research Program v7

We will assess the relative frequency of positive findings across AoU samples and compare the aggregate findings with those from other cohorts - e.g. GnomAD. The frequencies of positive findings will be further broken down by the ancestry background of…

Scientific Questions Being Studied

We will assess the relative frequency of positive findings across AoU samples and compare the aggregate findings with those from other cohorts - e.g. GnomAD. The frequencies of positive findings will be further broken down by the ancestry background of the participants to understand the impact of diverse backgrounds has on the rate of pathogenic findings. Additionally, we study the relationship between specific pathogenic variants and incidence of known disease in order to help resolve variants of uncertain significance.

Project Purpose(s)

  • Other Purpose (Demonstrate the potential utility of Researcher Workbench data by describing the frequency of known pathogenic & pharmacogenomic variants in the current genomic dataset.)

Scientific Approaches

We will annotate genomic variants from AoU participants with variant curations that have been recorded by the HGSC-CL clinical annotation team in its ‘VIP’ database or in ClinVar. We will assess the frequency of these previously-known pathogenic mutations, and provide breakdowns by ancestry.

Anticipated Findings

These data will likely identify groups that are underrepresented and overrepresented by the current knowledge of pathogenic variants, and may provide important directions for prioritizing future research. Additionally, they may point to systematic differences between the AoU resource and other resources, such as GnomAD.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Eric Venner - Early Career Tenure-track Researcher, Baylor College of Medicine

Collaborators:

  • Huyen Nguyen - Project Personnel, Baylor College of Medicine
  • Aniko Sabo - Other, Baylor College of Medicine
  • Moez Dawood - Graduate Trainee, Baylor College of Medicine
  • Divya Kalra - Project Personnel, Baylor College of Medicine
  • Claire Gu - Research Fellow, Baylor College of Medicine
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