Research Fellow, Beth Israel Deaconess Medical Center
1 active project
Extending Polygenic Risk Scores for Unique Phenotypes
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.
- Disease Focused Research (Cardiometabolic diseases)
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.
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 UsedControlled Tier
- Jacob Barber - Research Fellow, Beth Israel Deaconess Medical Center
- Michael Mi - Research Fellow, Beth Israel Deaconess Medical Center
- Aaron Eisman - Graduate Trainee, Brown University
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