Jacob Barber

Research Fellow, Beth Israel Deaconess Medical Center

2 active projects

Duplicate of Extending Polygenic Risk Scores for Unique Phenotypes

Complex diseases such as cardiovascular disease and Type II diabetes represent a substantial public health burden. Identifying genetic predictors and determinants of complex disease risk may allow for the early identification of, and intervention for, individuals at risk of disease…

Scientific Questions Being Studied

Complex diseases such as cardiovascular disease and Type II diabetes represent a substantial public health burden. Identifying genetic predictors and determinants of complex disease risk may allow for the early identification of, and intervention for, individuals at risk of disease and potentially uncover novel mechanisms of disease progression. Furthermore, by interrogating the genetic architecture of intermediate phenotypes (e.g. body composition, blood pressure, cholesterol, and molecular phenotypes) we may identify novel predictors and risk factors for disease. Thus, the purpose of this workspace is to develop internal methods for examining the association between polygenic risk scores of unique intermediate phenotypes derived in diverse population based cohorts, and overt cardiometabolic disease within All of Us.

Project Purpose(s)

  • Disease Focused Research (Cardiometabolic diseases)
  • Ancestry

Scientific Approaches

We will leverage whole genome sequencing data from multiple, diverse, population based cohorts to derive polygenic risk scores for a variety of novel phenotypes using multiple methods such as: clumping/pruning and thresholding (PRSice), LDpred2, and PRS-CS. Validated scores will then be constructed for each All of Us participant and the association between polygenic risk and cardiometabolic diseases will be examined.

Anticipated Findings

The current workbench serves as a first step toward identifying novel pathways linking intermediate phenotypes available in our diverse population based cohorts to cardiometabolic disease risk in All of Us. Furthermore, there is considerable interest in developing and validating polygenic risk scores in diverse populations to shrink gaps in clinical care across ethnic and socioeconomic groups. We aim to work toward precision medicine that is applicable to all populations.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Jacob Barber - Research Fellow, Beth Israel Deaconess Medical Center

Collaborators:

  • Prashant Rao - Research Fellow, Beth Israel Deaconess Medical Center

Extending Polygenic Risk Scores for Unique Phenotypes

Complex diseases such as cardiovascular disease and Type II diabetes represent a substantial public health burden. Identifying genetic predictors and determinants of complex disease risk may allow for the early identification of, and intervention for, individuals at risk of disease…

Scientific Questions Being Studied

Complex diseases such as cardiovascular disease and Type II diabetes represent a substantial public health burden. Identifying genetic predictors and determinants of complex disease risk may allow for the early identification of, and intervention for, individuals at risk of disease and potentially uncover novel mechanisms of disease progression. Furthermore, by interrogating the genetic architecture of intermediate phenotypes (e.g. body composition, blood pressure, cholesterol, and molecular phenotypes) we may identify novel predictors and risk factors for disease. Thus, the purpose of this workspace is to develop internal methods for examining the association between polygenic risk scores of unique intermediate phenotypes derived in diverse population based cohorts, and overt cardiometabolic disease within All of Us.

Project Purpose(s)

  • Disease Focused Research (Cardiometabolic diseases)
  • Ancestry

Scientific Approaches

We will leverage whole genome sequencing data from multiple, diverse, population based cohorts to derive polygenic risk scores for a variety of novel phenotypes using multiple methods such as: clumping/pruning and thresholding (PRSice), LDpred2, and PRS-CS. Validated scores will then be constructed for each All of Us participant and the association between polygenic risk and cardiometabolic diseases will be examined.

Anticipated Findings

The current workbench serves as a first step toward identifying novel pathways linking intermediate phenotypes available in our diverse population based cohorts to cardiometabolic disease risk in All of Us. Furthermore, there is considerable interest in developing and validating polygenic risk scores in diverse populations to shrink gaps in clinical care across ethnic and socioeconomic groups. We aim to work toward precision medicine that is applicable to all populations.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Jacob Barber - Research Fellow, Beth Israel Deaconess Medical Center

Collaborators:

  • Michael Mi - Research Fellow, Beth Israel Deaconess Medical Center
  • Aaron Eisman - Graduate Trainee, Brown University
1 - 2 of 2
<
>
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.