Peter Donnelly

The paper maps meiotic recombination intermediates in mice to show two repair modes that direct crossovers away from transcriptionally active genes.

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 releases and evaluates polygenic risk scores for 53 diseases and traits in the UK Biobank and shows they outperform existing scores.

The paper reports genotyping and population structure findings from the China Kadoorie Biobank, revealing relatedness, consanguinity, and population movement patterns.

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.

The paper identifies ZCWPW1 as a protein recruited by PRDM9 to recombination hotspots and shows it is essential for meiotic double strand break repair and fertility in mice.

The paper analyzes genome-wide data from Spanish individuals to reveal fine-scale genetic structure and historical population movements, including North African ancestry from the Muslim period.

The paper reports high-quality genomes of six Orientia tsutsugamushi strains using long-read sequencing and identifies a small core genome and phylogenetic relationships.

This study uses whole-genome sequencing of platypuses to reveal strong population structure, recent bottlenecks, and genetic relationships across their range.

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

This paper develops a Bayesian framework to analyze genetic associations with healthcare phenotypes in the UK Biobank, identifying over 2,000 diagnostic term associations and novel immune-mediated disease links.

Quality-controlled genotypes for 488,377 UK Biobank participants at 805,426 markers, imputed to ~96 million variants, plus ancestry PCs, kinship (30.3% have close relatives enrolled) and HLA calls.

The paper evaluates HLA imputation methods using a multi-ethnic panel, introduces a new method HLA*IMP:03, and shows it achieves high accuracy without requiring probability thresholds.