Megan J. Puckelwartz

Risk factors affecting polygenic score performance across diverse cohorts

The paper examines how covariates affect polygenic score performance across European and African cohorts, finding significant differences in R2 and interaction effects, and proposes methods to improve model performance.

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index

This study evaluates how ancestry, GWAS sample size, and LD reference panels affect BMI PRS performance across different age groups and ancestries.

Polygenic risk vectors (PRV) improve genetic risk stratification for cardio-metabolic diseases

This paper introduces polygenic risk vectors (PRV) to improve genetic risk stratification for cardio-metabolic diseases by combining additive and dominant genetic effects, outperforming traditional polygenic risk scores.

Trajectory analysis of cardiovascular phenotypes from biobank data uncovers novel genetic associations

The paper uses longitudinal biobank data to analyze genetic associations with cardiovascular phenotypes, identifying novel variants near WLS and MYO10 genes.

Enhancer and Promoter Usage in the Normal and Failed Human Heart

This study uses CAGE-seq to analyze promoter and enhancer usage in healthy and failed human hearts, identifying changes in gene regulation associated with heart failure.

Pathogenic and uncertain genetic variants have clinical cardiac correlates in diverse biobank participants