Mary Pat Reeve

The paper develops and validates polygenic risk scores (PRS) for 150 diseases and mortality using UK Biobank and FinnGen data, showing genetic information provides the largest predictive gains for certain diseases but not others.

This study identifies 51 genetic loci associated with thyroid cancer through a multi-ancestry GWAS and explores pleiotropic relationships to uncover mechanistic clusters and genetic subtypes.

This paper performs fine-mapping of HLA effects in lichen planus subtypes, identifying specific HLA haplotypes associated with increased or decreased risk in oral and non-oral forms.

The paper uses population-scale single-nucleus ATAC-seq and RNA-seq to identify regulatory variants and their disease associations in immune cells.

This study identifies 12 enhancers in the 9p21.3 CAD risk locus that regulate MTAP, modulating vascular cell-state transitions and CAD risk through stress-responsive mechanisms.

The paper benchmarks polygenic scores in a large cohort, identifies top-performing models, and provides a public platform for PGS analysis and interpretation.

The paper identifies CFHR5 variants that reduce AMD risk by lowering FHR-5 levels and altering complement pathway activity.

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

The paper analyzes GWAS data for 27 traits to test evolutionary models, finding most traits are consistent with stabilizing selection rather than neutral evolution or directional selection.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

This study identifies five genetic loci associated with obstructive sleep apnoea and finds a causal link between BMI and OSA through polygenic risk scores and Mendelian randomization.

Target Gene Notebook links genetic associations to functional biological data to aid drug discovery and knowledge base creation.

The paper uses PheWAS across large cohorts to identify genetic associations with drug targets and predict drug safety and efficacy.