Tom G. Richardson

Investigating adiposity in childhood and adulthood on later life sleep health: a lifecourse Mendelian randomization study

This study uses Mendelian randomization to examine the lifecourse effects of childhood and adulthood adiposity on sleep health outcomes, finding that adult adiposity is a risk factor for insomnia while childhood adiposity may have protective effects when maintained in adulthood.

An Evaluation of Age-varying Genetic Effects underlying Body-mass Index and Blood Pressure in the UK Biobank

This paper evaluates age-varying genetic effects on BMI and blood pressure traits using UK Biobank data, finding trait-dependent interactions that influence cardiovascular outcomes.

Evaluating transportability of in-vitro cellular models to in-vivo human phenotypes using gene perturbation data

The paper evaluates the transportability of in-vitro gene perturbation models to in-vivo human phenotypes using CRISPR data and UK Biobank, finding some models are predictive while others are not.

The Genomic Architecture of Circulating Cytokine Levels Points to Drug Targets for Immune-Related Diseases

This study identifies genetic variants associated with circulating cytokine levels and suggests potential drug targets for immune-related diseases.

Small-cohort GWAS discovery with AI over massive functional genomics knowledge graph

KGWAS improves GWAS power in small cohorts by integrating a functional knowledge graph, discovering more associations for rare diseases.

Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian Randomization approaches

This paper compares two Mendelian Randomization approaches to assess pathway-specific effects of blood pressure and BMI on cardiovascular traits, finding distinct contributions from different Mendelian disease categories.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

Investigating the causal effects of childhood and adulthood adiposity on later life mental health outcome: a Mendelian randomisation study

This study uses Mendelian randomization to examine the causal effects of childhood and adulthood adiposity on anxiety and depression, finding childhood adiposity may protect against mental health issues if obesity is absent in adulthood.

An atlas of associations between polygenic risk scores from across the human phenome and circulating metabolic biomarkers

The paper constructs an atlas linking 129 polygenic risk scores to 249 metabolites in 83,004 UK Biobank participants, finding associations with BMI and smoking liability on systemic inflammation.

Evaluating and implementing block jackknife resampling Mendelian randomization to mitigate bias induced by overlapping samples

This paper evaluates block jackknife resampling in Mendelian randomization to reduce overfitting bias from overlapping samples, showing it outperforms external GWAS and overlapping sample methods in robustness.

Metabolomic signatures of lipid-modifying therapies using drug target Mendelian randomization

This study uses Mendelian randomization to compare the effects of lipid-modifying drug targets on CAD risk and blood metabolome traits across 115,082 UK Biobank participants.

An integrative multi-omics analysis of 16 autoimmune diseases and cancer outcomes highlights immune-cell regulatory mechanisms and shared genetic architecture

The paper uses multi-omics methods to identify genes and cell-type specific effects associated with autoimmune diseases and cancer outcomes.

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

Triangulating molecular evidence to prioritise candidate causal genes at established atopic dermatitis loci

This paper prioritises candidate causal genes at 25 atopic dermatitis GWAS loci using a novel pipeline called ADGAPP, identifying both known and novel candidates.

Genetic predictors of participation in optional components of UK Biobank

The paper identifies genetic variants and phenotypes associated with participation in optional UK Biobank components and shows common participation bias across studies.

The use of negative control outcomes in Mendelian Randomisation to detect potential population stratification or selection bias.

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.

Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

The role of gene expression on human sexual dimorphism: too early to call

The paper investigates sex-specific cis-eQTLs in whole blood RNA-seq data and finds they do not systematically translate into detectable sex-specific trait associations due to limited power and compensatory effects.

Smoking, DNA methylation and lung function: a Mendelian randomization analysis to investigate causal relationships

This study uses Mendelian randomization to investigate causal relationships between smoking-associated DNA methylation and lung function, identifying 18 CpGs with potential causal effects on FEV1.

A factorial Mendelian randomization study to systematically prioritize genetic targets for the treatment of cardiovascular disease

This paper uses factorial Mendelian randomization to identify 20 genes that could reduce cardiovascular disease risk when combined with statin therapy, with PRKCE showing potential benefits without adverse effects.

A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome

This study uses transcriptome-wide Mendelian randomization to identify tissue-dependent gene-trait associations across 48 tissues and 395 traits, revealing genetic colocalization and potential drug repositioning opportunities.

Investigating causal pathways between liability to ADHD and substance use, and liability to substance use and ADHD risk, using Mendelian randomization.

This study uses Mendelian randomization to investigate bidirectional causal relationships between ADHD liability and substance use, finding evidence of causal effects in both directions for smoking and cannabis use.

Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease

This study uses Mendelian randomization and multiple-trait colocalization to identify cell-specific cytokines and immune cell types driving autoimmune and atopic diseases.

An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

This study creates a polygenic risk score atlas linking genetic liability to 551 traits, revealing causal relationships like schizophrenia's inverse link to cognitive function.

Leveraging brain cortex-derived molecular data to elucidate epigenetic and transcriptomic drivers of neurological function and disease

The paper identifies genetic variants influencing both molecular phenotypes and neurological traits using Bayesian colocalization analysis across brain cortex data.

Prioritizing putative influential genes in early life cardiovascular disease susceptibility by applying tissue-specific Mendelian randomization

The paper identifies tissue-specific genetic loci influencing cardiovascular disease risk by integrating gene expression, Mendelian randomization, and colocalization analyses.

DNA methylation mediates genetic liability to non-syndromic cleft lip/palate

The paper identifies three loci where genetic liability to non-syndromic cleft lip/palate may be mediated by DNA methylation variation in blood and tissue.

PhenoSpD: an integrated toolkit for phenotypic correlation estimation and multiple testing correction using GWAS summary statistics

PhenoSpD estimates phenotypic correlations and corrects multiple testing using GWAS summary statistics, reducing dimensionality for complex traits.

Identification of loci where DNA methylation potentially mediates genetic risk of type 1 diabetes

The paper investigates whether DNA methylation mediates genetic risk for type 1 diabetes by analyzing SNP-methylation associations across different life stages.