Nicholas Sumpter

Graduate Trainee, University of Alabama at Birmingham

3 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:

Duplicate of Skills Assessment Training Notebooks For Users

This workspace contains multiple notebooks that assess users' understanding of the workbench and OMOP. These notebooks are meant to help users check their knowledge not only on Python, R, and SQL, but also on the general data structure and data…

Scientific Questions Being Studied

This workspace contains multiple notebooks that assess users' understanding of the workbench and OMOP. These notebooks are meant to help users check their knowledge not only on Python, R, and SQL, but also on the general data structure and data model used by the All of Us program.

Project Purpose(s)

  • Educational

Scientific Approaches

There are no scientific approach used in this workspace because it is meant for educational purposes only. We will cover all aspects of OMOP, and hence will use most datasets available in the workbench.

Anticipated Findings

We do not anticipate to have any findings. Instead, we are educating people on the use of the workbench and the common data model OMOP used by the program.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Sex-stratified genetic analysis of common gout comorbidities

Gout is the most common inflammatory arthritis in adult populations, with large variability in both prevalence and severity between biological sexes and genetic ancestral groups. One aspect of variability is presence of additional diseases at higher prevalence than in those…

Scientific Questions Being Studied

Gout is the most common inflammatory arthritis in adult populations, with large variability in both prevalence and severity between biological sexes and genetic ancestral groups. One aspect of variability is presence of additional diseases at higher prevalence than in those without gout. This has a large impact on mortality and quality of life for these individuals, and thus it is important that we understand the potential causes of the relationship between gout and these diseases. There is evidence for increased prevalence of additional diseases in biological women with gout compared to biological men with gout, with little known about the reasons behind this association. This analysis needs to be conducted with respect to ancestry and biological sex, thus it is important to study in a diverse population such as the All of Us cohort. An additional factor that needs to be investigated is genetic risk for gout, which also varies based on ancestry and biological sex.

Project Purpose(s)

  • Disease Focused Research (gout)
  • Population Health
  • Methods Development
  • Ancestry

Scientific Approaches

I will use logistic regression to estimate the relationship between gout genetic risk, serum urate (where available) and gout, with a sex-stratified cohort that also accounts for presence of additional diseases. More specifically, I will stratify the full cohort based on biological sex and the number of additional diseases that are commonly associated with gout. This will enable me to investigate the interaction between genetic risk for gout/serum urate and number of comorbid conditions on gout risk in a sex-specific context. I will perform follow-up mediation analyses to investigate the potential causal pathways involved in gout risk, with a particular interest in relative effects of different factors on gout risk in biological men relative to biological women. Finally, it will be important to see whether any findings are generalizable across different populations, thus this research will be performed in groups of different genetic ancestry.

Anticipated Findings

I anticipate that this study will provide evidence for sex-specific effects of various risk factors of gout, with a potential multi-ancestral role of genetic risk for gout and presence of additional diseases. This has the potential to be important for interpretation of existing studies based on contributions of sex and disease burden, and may lead to improved treatment and care of people with gout. Given the importance of comorbid conditions in gout for both mortality and quality of life, improved understanding of these disease relationships may lead to improved treatment of gout and/or these other conditions in the context of gout. Further, this research aims to destigmatize gout, which has traditionally been viewed as a self-inflicted disease caused by overindulgence in food and alcohol. By emphasizing other risk factors for gout, this research may enable a shift in perspective that leads to less blame on people with gout, a disease that particularly affects underrepresented groups.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Disability Status

Data Set Used

Controlled Tier

Research Team

Owner:

1 - 3 of 3
<
>
Request a Review of this Research Project

You 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.