Cody Majeskie

Graduate Trainee, Rocky Vista University

2 active projects

Duplicate of How to Work with All of Us Genomic Data (Hail - Plink)(v6)

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Scientific Questions Being Studied

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Project Purpose(s)

  • Other Purpose (Demonstrate to the All of Us Researcher Workbench users how to get started with the All of Us genomic data and tools. It includes an overview of all the All of Us genomic data and shows some simple examples on how to use these data.)

Scientific Approaches

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Anticipated Findings

Not applicable - these notebooks demonstrate example analysis how to use Hail and PLINK to perform genome-wide association studies using the All of Us genomic data and phenotypic data.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

FBN1 Mutation and Atrial Fibrillation

We believe that tall people with atrial fibrillation may have undiagnosed Marfan Syndrome. Understanding this relationship could improve screening of both atrial fibrillation and Marfan Syndrome. Furthermore this could give insight on the cellular mechanisms at playing possibly aiding in…

Scientific Questions Being Studied

We believe that tall people with atrial fibrillation may have undiagnosed Marfan Syndrome. Understanding this relationship could improve screening of both atrial fibrillation and Marfan Syndrome. Furthermore this could give insight on the cellular mechanisms at playing possibly aiding in better understanding of both Atrial Fibrillation and Marfan Syndromes pathogenesis.

Project Purpose(s)

  • Disease Focused Research (atrial fibrillation)
  • Ancestry

Scientific Approaches

We will start with an Atrial Fibrillation cohort irregardless of age, gender, or ethnicity. From there we will analyze the prevalence of FBN1 mutations in this cohort. FBN1 mutation is the known genetic mutation in Marfan Syndrome. We will then compare the heights of all individuals in the cohort who have both atrial fibrillation and FBN1 mutation to further assess the role height has.

Anticipated Findings

We believe that mutations in FBN1 genes will increase in prevalence in people with atrial fibrillation as their height increases. The results of this study could possibly advocate for an increased awareness for Marfan Syndrome, it could change how we screen for both atrial fibrillation and Marfan Syndrome, and lastly the results could help advance our understanding of the pathogenesis of atrial fibrillation and aid in discovery of future therapeutic interventions

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • JP Turney - Graduate Trainee, Rocky Vista University
  • Cody Majeskie - Graduate Trainee, Rocky Vista University
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