Jacqueline S. Dron

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations

The paper identifies 800 exome-wide significant rare coding variants associated with blood lipids in over a million diverse individuals, including 130 driven by non-European-like populations.

Genetic architecture of high-dimensional liver radiomic phenotypes and their role in common metabolic diseases

The paper identifies genetic associations with liver radiomic features and their links to metabolic diseases using UK Biobank data.

Human Plasma Proteomic Profile of Clonal Hematopoiesis

The paper identifies plasma proteins associated with clonal hematopoiesis and links them to cardiovascular disease through proteomic and genetic analyses.

Rare penetrant mutations confer severe risk of common diseases

The paper identifies rare variant polygenic risk scores as more effective than common variant polygenic risk scores in identifying individuals with outlier phenotypes in common human diseases and complex traits.

Genomic and phenomic landscape of clonal hematopoiesis in over a million ancestrally diverse participants

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

Design and user experience testing of a polygenic score report: a qualitative study of prospective users

The paper designs and tests a polygenic score report for coronary artery disease, identifying user preferences for visual elements, risk communication, and personalized resources.

Improving reporting standards for polygenic scores in risk prediction studies

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

Exautomate: A user-friendly tool for region-based rare variant association analysis (RVAA)

Exautomate simplifies region-based rare variant association analysis using SKAT, demonstrating its utility with a familial hypercholesterolemia cohort.