Lee Murphy

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

The paper describes a large DNA methylation dataset from the Generation Scotland cohort, providing methylation profiles and associated phenotypes for research purposes.

The paper conducts a Bayesian EWAS and GWAS of smoking using DNA methylation data from blood and brain tissues, identifying smoking-related loci and developing an epigenetic biomarker.

The paper investigates how mutation timing, fitness, and clonal structure influence the clinical progression of clonal hematopoiesis using longitudinal cohort data.

This study quantifies DNA methylation changes during human articular cartilage development and identifies epigenomic mediators of osteoarthritis risk in prenatal joint tissues.

This study uses scRNA-seq to identify cell types and gene signatures in developing worker honey bees, providing a first single-cell atlas of honey bee development.

The paper evaluates normalization methods for DNA methylation data to improve BMI prediction across cohorts when projecting new data onto a reference panel.

The paper refines epigenetic predictors of chronological and biological age using large-scale EWAS and external validation, improving cAge prediction and outperforming existing bAge predictors.

The paper conducts blood-based epigenome-wide association studies on 19 disease states, identifying novel CpG-disease associations and highlighting poor replication in existing literature.

This study compares DNA methylation signatures of ageing and inflammation in blood and brain tissues, finding divergent correlations and a link between epigenetic age acceleration and microglial burdens in the hippocampus.

The paper applies blood-derived epigenetic predictors of lifestyle traits to brain samples, finding variable correlations across brain regions and a strong link between smoking and the dorsolateral prefrontal cortex.

The paper shows de novo DNA methyltransferases in colorectal cancer target H3K36me3-marked CpG islands, similar to normal tissues, rather than sequence-specific CpG islands.

The paper assesses DNA methylation profiles from dried blood spots (DBS) compared to EDTA tubes and finds they are highly correlated and suitable for epigenetic studies.

The paper replicates 55,000 DNA methylation QTLs using two cohorts and finds enrichment of trans mQTLs in specific genomic regions and complex traits.