Karen N. Conneely

Multi-ancestry analysis of 791K whole genomes reveals the genetic, geographic, and phenotypic correlates of somatic passenger mutations in blood

The paper analyzes 791K whole genomes to identify genetic, geographic, and phenotypic factors associated with somatic passenger mutations in blood, revealing shared pathways and population-specific determinants of clonal hematopoiesis.

Genome-wide characterization of clonal hematopoiesis reveals extensive non-coding putative driver mutations

The paper identifies novel non-coding driver mutations in clonal hematopoiesis using whole genome sequences from the UK Biobank and links them to common diseases.

Pruning and thresholding approach for methylation risk scores in multi-ancestry populations

The paper introduces a pruning and thresholding method for methylation risk scores to improve prediction across multi-ancestry populations, showing better performance than simple thresholding.

Epigenome-wide meta-analysis of BMI in nine population-based cohorts: examining the utility of methylation as a biomarker of BMI

This study identifies CpG sites associated with BMI and shows that epigenetic BMI prediction correlates with metabolic health markers.

Methylation Quantitative Trait Loci are Largely Consistent across Disease States in Crohns disease

The paper identifies methylation quantitative trait loci (mQTLs) in blood and ileum samples from Crohn's disease patients and finds they are largely consistent across disease states and tissues.

Brain DNA Methylation Patterns in CLDN5 Associated With Cognitive Decline

The paper identifies DNA methylation in the CLDN5 locus as associated with cognitive decline, independent of neuropathology, suggesting a role for the blood-brain barrier in cognitive trajectory.

Methylome-Wide Association Study Of Central Adiposity Implicates Genes Involved In Immune And Endocrine Systems

This study identifies DNA methylation sites associated with central adiposity traits in adults and adolescents using methylome-wide association analyses across multiple cohorts.

Association between DNA Methylation Levels in Brain Tissue and Late-Life Depression in Community-Based Participants

This study identifies DNA methylation loci associated with late-life depression in brain tissue, highlighting sex-specific differences.

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.

Characterization of Gene Expression Changes Over Healthy Term Pregnancies

This study identifies 439 genes whose expression changes during healthy term pregnancies, associated with oxygen transport, immune function, and bacterial response.