Adam S. Butterworth

Genetic determinants of protein phosphorylation in humans

This study conducts the first genome-wide association study of the phosphoproteome, identifying genetic variants influencing protein phosphorylation and linking them to disease traits.

Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS): A Community Framework for Effector Gene Reporting

PEGASUS defines a community reporting standard for GWAS predicted effector genes: a metadata record, a full locus-by-gene evidence matrix, and a derived author-prioritised gene list.

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Beyond the classical plasma secretome: genetic architecture and disease associations of the expanded human plasma proteome in 13,445 Europeans

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

Leveraging Large-Scale Biobanks for Therapeutic Target Discovery

This study uses large biobanks to identify gene-trait pairs with causal evidence, rediscover approved drug targets, and develop a predictive model for drug development.

The genetic determinants of plasma protein variance across ancestries and effects on cardiometabolic disease risk

This study identifies genetic determinants of plasma protein variance across ancestries and shows their impact on cardiometabolic disease risk.

Performance of deep-learning based approaches to improve polygenic scores

This study evaluates deep-learning methods for improving polygenic scores, finding limited benefits due to confounding effects from linkage disequilibrium.

Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits

The paper introduces a method to improve genetic discovery and fine-mapping by analyzing latent factors from high-dimensional traits, showing enhanced power compared to traditional approaches.

Metabolic reaction fluxes as amplifiers and buffers of risk alleles for coronary artery disease

This study identifies metabolic reaction fluxes that interact with CAD risk alleles, revealing their role as amplifiers or buffers in disease susceptibility.

Genetic determinants of blood gene expression and splicing and their contribution to molecular phenotypes and health outcomes

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

Genetic mechanisms of 184 neuro-related proteins in human plasma

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

Misexpression of inactive genes in whole blood is associated with nearby rare structural variants

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

Identifying therapeutic targets for cancer: 2,094 circulating proteins and risk of nine cancers

This study identifies 40 circulating proteins associated with cancer risk using MR and colocalization, highlighting potential therapeutic targets and adverse effects of protein-altering interventions.

Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

This study identifies 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

Mapping pQTLs of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and novel therapeutic targets

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.

An atlas of genetic scores to predict multi-omic traits

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.

flashfmZoom: a tool for joint fine-mapping and exploration of GWAS results in the UK Biobank

flashfmZoom is an R Shiny app that enables joint fine-mapping and exploration of GWAS results from the UK Biobank to identify shared or distinct causal variants across traits.

Genetically personalised organ-specific metabolic models in health and disease

The paper develops genetically personalised organ-specific metabolic models to identify associations between metabolic fluxes and disease risk, finding 97 fluxes linked to coronary artery disease.

Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways

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

flashfm-ivis: interactive visualisation for fine-mapping of multiple quantitative traits

flashfm-ivis provides interactive visualizations for exploring shared and distinct causal variants across multiple quantitative traits using fine-mapping results.

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

A major population resource of 474,074 participants in UK Biobank to investigate determinants and biomedical consequences of leukocyte telomere length.

The paper reports LTL measurements in 474,074 UK Biobank participants, identifying factors like age, sex, ethnicity, and white cell count associated with LTL variation.

Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases

The paper uses polygenic scores to identify plasma proteins causally linked to cardiometabolic diseases and finds some are targets for existing therapies.

Genetically predicted levels of the human plasma proteome and risk of stroke: a Mendelian Randomization study

This study uses Mendelian randomization to identify plasma proteins associated with stroke risk and potential therapeutic targets.

Genome-wide analysis of blood lipid metabolites in over 5,000 South Asians reveals biological insights at cardiometabolic disease loci

The paper identifies genetic associations between blood lipid metabolites and cardiometabolic disease loci in South Asian populations using lipidomics data from two studies.

Mapping genetic determinants of 184 circulating proteins in 26,494 individuals to connect proteins and disease.

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

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

ACE inhibition and cardiometabolic risk factors, lung ACE2 and TMPRSS2 gene expression, and plasma ACE2 levels: a Mendelian randomization study

This study uses Mendelian randomization to examine if ACE inhibitors or cardiometabolic risk factors affect lung ACE2 and TMPRSS2 expression or plasma ACE2 levels, finding no overall association.

South Asian patient population genetics reveal strong founder effects and high rates of homozygosity - new resources for precision medicine

The paper characterizes the genetic structure of South Asian populations, identifies founder effects and high homozygosity, and develops a custom SNP array for genetic studies in the region.

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

This paper uses Mendelian randomization and colocalization to identify causal relationships between plasma proteins and disease phenotypes, finding 111 putatively causal effects.