Anne Richmond

Gene-by-Sleep Duration Interaction for Glycemic Traits in over 480,000 Individuals

The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

Joint Variable Selection for Omic Biomarkers in Time-to-Event Data

The paper introduces vampW, a Bayesian method for joint variable selection in omic biomarkers and time-to-event data, showing reduced false discoveries and improved prediction.

Genome-wide analysis of 439 mass spectrometry-based proteomic profiles in a population of 15,035 Scottish individuals

The paper performs genome-wide association studies on 439 high-abundance serum proteins in 15,035 Scottish individuals, identifying 1,553 SNP signals and 13 putative causal protein-outcome associations.

Quantifying the contribution of genetic variation to healthcare expenditure across diverse healthcare systems

This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

An improved epigenetic age estimation with TFMethyl Clock reveals DNA methylation changes during aging in transcription factor binding sites

The paper improves epigenetic age estimation by developing a TFMethyl Clock model that incorporates transcription factor binding sites, revealing DNA methylation changes linked to aging.

Sex differences in the genetic basis of human recombination within 190,000 parent-child pairs

This study identifies 58 genomic regions associated with meiotic recombination, 24 of which are sex-specific, and finds a moderate genetic correlation between male and female recombination rates.

The impact of polygenic score and socioeconomic status in predicting risk for 19 complex diseases

This study examines how polygenic scores and socioeconomic status jointly influence risk for 19 diseases, finding distinct and partly interacting effects across populations.

Impact of commercial gut health interventions on caecal metagenome and broiler performance

This study evaluates the impact of commercial gut health interventions on caecal microbiota and broiler performance across three production cycles.

Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function

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

Imputed DNA methylation outperforms measured loci associations with smoking and chronological age

The paper shows that imputing DNA methylation loci from epigenome-wide data provides stronger associations with smoking and age than directly measured CpGs.

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.

This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.

Dual site proteomic analyses reveal potential drug targets for cardiovascular disease

This paper uses Mendelian randomisation to identify potential drug targets for cardiovascular disease by analysing protein levels in plasma and PBMCs from large cohorts.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity

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.

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.

SNPs associated with HHIP expression have differential effects on lung function in males and females

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.