James F. Wilson

This study analyzes ancient DNA from three European sites to assess the genomic impact of the second plague pandemic, finding no strong positive selection but evidence of reduced long-range immigration post-pandemic.

This study shows that germline MUTYH haploinsufficiency increases mutational signature SBS18 and CRC risk, but not other cancers, due to oxidative DNA damage in the colorectum.

The paper identifies 505 protein quantitative trait loci (pQTL) in a Scottish cohort, linking proteins to complex traits and diseases, and highlights potential drug targets.

The paper investigates epitope effects in pQTL studies, finding that only 12% or less of cis-pQTL results are influenced by missense-mediated epitope effects.

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

The paper identifies 52 genome-wide associations for urinary metabolites and finds causal relationships between eGFR and 13 metabolites.

The paper identifies two founder BRCA variants in Orkney and Shetland populations, accounting for 93.5% of pathogenic BRCA alleles.

The paper identifies regionally enriched rare deleterious exonic variants in the UK and Ireland using exome sequencing data, highlighting potential implications for genetic screening and counseling.

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

This study investigates the association between ancestral genetic components and complex traits in European biobanks, finding that these components contribute to trait variation and act as confounders.

The paper identifies 16 genomic loci associated with IgG galactosylation through GWAS and validates three genes using CRISPR/dCas9 in an in vitro system.

The paper identifies pQTLs for 91 plasma proteins, finds novel associations, and uses MR to uncover causal roles in immune-mediated diseases, suggesting new therapeutic targets.

VIKING II recruits 4,000 volunteers with Northern Isles ancestry to study genetic variants influencing disease through genomic and health data collection.

The paper develops genetic scores for 17,227 molecular traits using multi-omic data from INTERVAL and validates them across ancestries, demonstrating their utility in pathway analysis and disease association discovery.

The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.

The paper uses exome sequencing to identify rare variants in glycosyltransferase genes affecting transferrin and IgG glycosylation, linking them to disease-related traits.

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

This study identifies 19 genome-wide significant loci associated with liking of physical activity traits using UK Biobank data and validates findings in twin cohorts.

The paper uses genetic variation to assess the causal impact of food choices on health outcomes, identifying robust associations between eating patterns and several diseases.

The paper identifies genetic loci regulating glycosylation of transferrin and IgG, finding both shared and protein-specific associations and proposing tissue-specific transcription factor regulation.

The paper develops eleven omics-based biological age clocks with strong correlations to chronological age and shows their association with disease risk.

This study identifies modifiable parent-of-origin effects on DNA methylation by analyzing genetic and environmental factors in a large cohort.

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

This study uses Mendelian randomization to identify 417 potential causal links between dietary patterns and blood metabolites, including novel associations and replication of known ones.

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

This study uses genome-wide methylation data to assess the impact of smoking and gene-smoking interactions on obesity-related traits, showing improved variance explanation compared to traditional methods.

This study identifies 592 genetic loci associated with 184 plasma proteins in 26,494 individuals and finds causal relationships between protein levels and disease.