Stacy Steinberg

Research Associate, Gladstone Institutes

6 active projects

Genetics of CAD (coronary artery disease) in Diverse Populations v7 II

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…

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 Tier

Research Team

Owner:

Collaborators:

  • Catherine Tcheandjieu - Senior Researcher, Gladstone Institutes

Genetics of CAD (coronary artery disease) in Diverse Populations with Dataset v7

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…

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 Tier

Research Team

Owner:

Collaborators:

  • Catherine Tcheandjieu - Senior Researcher, Gladstone Institutes

Investigating zebrafish genome-wide association study (GWAS) signals in humans

We carried out a zebrafish genome-wide association study (GWAS) of a motivated behavior that resulted in over 30 significant Quantitative Trait Loci (QTLs). We found that genes in these QTLs were, more often than expected by chance, associated with mental…

Scientific Questions Being Studied

We carried out a zebrafish genome-wide association study (GWAS) of a motivated behavior that resulted in over 30 significant Quantitative Trait Loci (QTLs). We found that genes in these QTLs were, more often than expected by chance, associated with mental health disorders including schizophrenia, depression, and attention deficit hyperactivity disorder (ADHD). Moreover, we found 19 sequence elements that are conserved between zebrafish and humans and contain at least one zebrafish genome-wide significant variant. Here, our goal is to further explore the conserved sequence elements and SNPs within them in the human data to determine whether genotype-phenotype associations can be detected, especially with respect to mental health phenotypes.

Project Purpose(s)

  • Other Purpose (Health-related research at a university)

Scientific Approaches

We plan to use the whole-genome sequencing data and the information on mental health available from electronic health records and survey questions. We will test whether human variants in the conserved sequence elements, identified through studying the zebrafish motivated behavioral spectrum, are associated with mental health disorders such as schizophrenia, depression, and ADHD, using appropriate statistical methods. For instance, for common variants we will use logistic regression, whereas for rare variants, we will use Fisher's Exact Test.

Anticipated Findings

Zebrafish is a tractable genetic model that can be used to study the cellular and molecular mechanisms underlying complex behavior including brain circuitry. However, little is known about the conservation of zebrafish and human behavior at a mechanistic level. Our goal is to increase knowledge of this relationship, thereby facilitating the use of the zebrafish model in the elucidation of human mental disorder pathophysiology.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Investigating zebrafish genome-wide association study (GWAS) signals II

We carried out a zebrafish genome-wide association study (GWAS) of a motivated behavior that resulted in over 30 significant Quantitative Trait Loci (QTLs). We found that genes in these QTLs were, more often than expected by chance, associated with mental…

Scientific Questions Being Studied

We carried out a zebrafish genome-wide association study (GWAS) of a motivated behavior that resulted in over 30 significant Quantitative Trait Loci (QTLs). We found that genes in these QTLs were, more often than expected by chance, associated with mental health disorders including schizophrenia, depression, and attention deficit hyperactivity disorder (ADHD). Moreover, we found 19 sequence elements that are conserved between zebrafish and humans and contain at least one zebrafish genome-wide significant variant. Here, our goal is to further explore the conserved sequence elements and SNPs within them in the human data to determine whether genotype-phenotype associations can be detected, especially with respect to mental health phenotypes.

Project Purpose(s)

  • Other Purpose (Health-related research at a university)

Scientific Approaches

We plan to use the whole-genome sequencing data and the information on mental health available from electronic health records and survey questions. We will test whether human variants in the conserved sequence elements, identified through studying the zebrafish motivated behavioral spectrum, are associated with mental health disorders such as schizophrenia, depression, and ADHD, using appropriate statistical methods. For instance, for common variants we will use logistic regression, whereas for rare variants, we will use Fisher's Exact Test.

Anticipated Findings

Zebrafish is a tractable genetic model that can be used to study the cellular and molecular mechanisms underlying complex behavior including brain circuitry. However, little is known about the conservation of zebrafish and human behavior at a mechanistic level. Our goal is to increase knowledge of this relationship, thereby facilitating the use of the zebrafish model in the elucidation of human mental disorder pathophysiology.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Genetics of CAD (coronary artery disease) in Diverse Populations

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…

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 Tier

Research Team

Owner:

Collaborators:

  • Catherine Tcheandjieu - Senior Researcher, Gladstone Institutes

Duplicate of Duplicate of Phenotype - Ischemic Heart Disease (v6)

The Notebooks in this workspace can be used to implement well-known phenotype algorithms in one’s own research.

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 Tier

Research Team

Owner:

Collaborators:

  • Catherine Tcheandjieu - Senior Researcher, Gladstone Institutes
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