Elizabeth W. Karlson

The paper identifies plasma metabolites associated with incident heart failure with reduced (HFrEF) and preserved ejection fraction (HFpEF) using metabolomics and machine learning, finding higher glutamine levels increase risk while omega-3 fatty acids decrease it.

The paper estimates penetrance of disease variants in genes prioritized for genomic newborn screening using adult biobank data, finding higher penetrance than ICD codes suggest.

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

This study identifies genetic links between clusters of immune-mediated diseases and psychiatric disorders using genomic structural equation modeling and a new heterogeneity metric.

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 paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

The paper analyzes genetic, ancestral, and geospatial data from a biobank to explore their relationships with health outcomes in a historically diverse population.

The paper develops OMICmAge, a multi-omics biomarker of biological age, and shows it outperforms existing markers in predicting chronic diseases and mortality.

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.

This study identifies 20 genome-wide significant loci associated with serum IgA levels and finds genetic correlations with various immune and metabolic traits.

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

This study finds that elevated blood pressure increases pneumonia risk and reduces pulmonary function, supported by both epidemiological and Mendelian randomisation analyses in the UK Biobank.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

This paper develops G-Prob, a method converting genetic data into disease probabilities for inflammatory arthritis, improving diagnostic accuracy in rheumatology.

The paper introduces MASC, a method to identify disease-associated cell subsets in single-cell data, and finds an expanded Th1-skewed cytotoxic CD4+ T cell subset in rheumatoid arthritis.