Stacy Steinberg
Research Associate, Gladstone Institutes
3 active projects
Genetics of CAD (coronary artery disease) in Diverse Populations
Scientific Questions Being Studied
To date, most GWAS (genome-wide association studies) have been carried out using individuals of European ancestry. This makes creating genetic predictors for individuals of other ancestries difficult. In addition, because large groups of variants are strongly correlated in Europeans, it is hard to identify causal variants. I seek to use AllofUs phenotypic and genomic data to aid in creating genetic predictors for CAD (coronary artery disease) in diverse populations, as well to further investigate known loci for CAD (coronary artery disease).
Project Purpose(s)
- Educational
Scientific Approaches
I plan to use the results of large GWASs (Genome Wide Association Studies) to create PRSs (Polygenic Risk Scores) for CAD (coronary artery disease) in individuals of diverse ancestries. I will then test these scores' ability to predict CAD (coronary artery disease) in All of Us individuals of various ancestries, including mixed ancestry. In addition, I will examine risk of single variants and haplotypes at known CAD (coronary artery disease) loci in All of Us individuals of diverse ancestries.
Anticipated Findings
I anticipate finding better predictors of CAD (coronary artery disease), especially in individuals of mixed ancestry. This should facilitate early intervention for at-risk individuals. I also anticipate improving our understanding of known loci, with an eye towards identifying causal variants.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Controlled TierGenetics of CAD (coronary artery disease) in Diverse Populations with Dataset v7
Scientific Questions Being Studied
To date, most GWAS (genome-wide association studies) have been carried out using individuals of European ancestry. This makes creating genetic predictors for individuals of other ancestries difficult. In addition, because large groups of variants are strongly correlated in Europeans, it is hard to identify causal variants. I seek to use AllofUs phenotypic and genomic data to aid in creating genetic predictors for CAD (coronary artery disease) in diverse populations, as well to further investigate known loci for CAD (coronary artery disease).
Project Purpose(s)
- Educational
Scientific Approaches
I plan to use the results of large GWASs (Genome Wide Association Studies) to create PRSs (Polygenic Risk Scores) for CAD (coronary artery disease) in individuals of diverse ancestries. I will then test these scores' ability to predict CAD (coronary artery disease) in All of Us individuals of various ancestries, including mixed ancestry. In addition, I will examine risk of single variants and haplotypes at known CAD (coronary artery disease) loci in All of Us individuals of diverse ancestries.
Anticipated Findings
I anticipate finding better predictors of CAD (coronary artery disease), especially in individuals of mixed ancestry. This should facilitate early intervention for at-risk individuals. I also anticipate improving our understanding of known loci, with an eye towards identifying causal variants.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Controlled TierDuplicate of Duplicate of Phenotype - Ischemic Heart Disease (v6)
Scientific Questions Being Studied
The Notebooks in this workspace can be used to implement well-known phenotype algorithms in one’s own research.
Project Purpose(s)
- Educational
- Methods Development
- Other Purpose (This is an All of Us Phenotype Library Workspace created by the Researcher Workbench Support team. It is meant to demonstrate the implementation of key phenotype algorithms within the All of Us Research Program cohort.)
Scientific Approaches
Not Applicable
Anticipated Findings
By reading and running the Notebooks in this Phenotype Library Workspace, researchers can implement the following phenotype algorithms:
Christianne L. Roumie; Jana Shirey-Rice, Sunil Kripalani. Vanderbilt University. MidSouth CDRN - Coronary Heart Disease Algorithm. PheKB; 2014. Available from https://phekb.org/phenotype/234
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Registered TierYou 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.