Jack William O’Sullivan

This paper develops an in silico framework to evaluate the impact of polygenic risk score (PRS)-guided prognostic enrichment on clinical trial design using genomic and electronic health record data.

This study evaluates how polygenic risk scores can optimize screening programs to reduce premature deaths by tailoring screening ages based on genetic risk.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

This study evaluates the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm compared to current strategies.

The paper assesses the replication of genome-wide significant SNPs from earlier GWAS in the UK Biobank, finding an 85% overall replication rate with differences by phenotype type.

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.

This paper develops an integrated risk tool combining polygenic risk scores with clinical risk factors to improve coronary artery disease prediction, showing better performance than existing tools.