Christian Betteridge

Undergraduate Student, Brigham Young University

2 active projects

Duplicate of Data Wrangling in All of Us Program (v6)

For Educational purpose to show best practices when using jupyter notebooks for data access, storage, data manipulations - transformations, conversions, cleaning, optimization and other research support related issues that is useful for multiple AoU researchers.

Scientific Questions Being Studied

For Educational purpose to show best practices when using jupyter notebooks for data access, storage, data manipulations - transformations, conversions, cleaning, optimization and other research support related issues that is useful for multiple AoU researchers.

Project Purpose(s)

  • Educational
  • Other Purpose (For use with Office hours. notebooks for adding code snippets useful for researchers. This is a placeholder for creating notebooks for best practices among other things)

Scientific Approaches

For Educational purpose to show best practices when using jupyter notebooks for data access, storage, data manipulations - transformations, conversions, cleaning, optimization and other research support related issues that is useful for multiple AoU researchers.

Anticipated Findings

For Educational purpose to show best practices when using jupyter notebooks for data access, storage, data manipulations - transformations, conversions, cleaning, optimization and other research support related issues that is useful for multiple AoU researchers.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

PASK, USF1, ATXN2 genomic/lab value analysis

Due to the far-reaching effects of metabolic dysregulation, the All of Us dataset makes it possible for us to examine PASK, USF1, and ATXN2 variants on various phenotypes and disorders. PAS Kinase (PASK) is a protein that responds to glucose…

Scientific Questions Being Studied

Due to the far-reaching effects of metabolic dysregulation, the All of Us dataset makes it possible for us to examine PASK, USF1, and ATXN2 variants on various phenotypes and disorders.
PAS Kinase (PASK) is a protein that responds to glucose availability and regulates glucose metabolism in yeast, mice, and humans. Metabolic issues contribute to diabetes, cancer, and heart disease. Publications have shown a relationship between conditions such as those listed above and PASK. Our research aims to find genetic associations between PASK and two of its substrates with various disease phenotypes. We will accomplish this using data provided by the All of Us dataset, which includes lab measurements and whole genome sequencing. We will perform a linear regression analysis to find associations between PASK gene variants among diverse ancestries to find new trends and associations between various metabolic issues and phenotypical expression.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We propose to discover associations between USF1, ATXN2, and PASK to analyze their variation in conjunction with blood pressure, heart rate, hemoglobin, blood count, lipid panels, and urinalysis using the All of Us dataset.
We will utilize the All of Us dataset to find associations between PASK, USF1, and ATXN2and their phenotypes in diverse ancestry groups. Regression analyses will present our findings.
Our genome-wide association study (GWAS) will look at common and rare variants found in the PASK, USF1, and ATXN2. Using diverse data, we can better indicate significant variations between these genes and make applicable findings for all people. Efforts to ensure ancestrally varying datasets improve contributions made in medicine to make progress towards personalized care. European, African, Asian, and Hispanic populations are all included in the All of Us dataset, which will guarantee more accurate associations made in our study.

Anticipated Findings

Our final goal will be to show associations between these three genes of interest with disease phenotypes. We expect to see significant phenotype-gene associations in various areas due to the central nature of lipid and respiratory metabolism and the role of their dysregulation in many diseases. We will publish our findings in a peer-reviewed article which will be part of a more extensive publication. The publication will include information from the genome-wide association study described in this proposal. It will also include data collected from a phenome-wide association study, identifying associated disease phenotypes for PASK, USF1, and ATXN2. Next fall, I will present the data as a poster at the American Society of Human Genetics (ASHG). Lastly, if selected for the award, I will give my research at the College of Life Sciences CURA research conference next spring.

Demographic Categories of Interest

  • Race / Ethnicity
  • Sex at Birth

Data Set Used

Controlled Tier

Research Team

Owner:

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