Joanne B. Cole

This paper identifies 18 novel X chromosome loci associated with dietary intake traits using multiple X-WAS models in the UK Biobank.

This study models the genomic architecture of adiposity and anthropometrics across the lifespan, identifying shared and distinct genetic factors and their associations with health outcomes.

This paper develops a pipeline for translating type 1 diabetes polygenic risk scores into clinical use, showing they can distinguish type 1 from type 2 diabetes and identify high-risk individuals.

The paper finds that functional variants in TAS2R38 associate with lower postprandial glucose levels, independent of dietary and lifestyle factors.

Summix2 uses mixture modeling to estimate and adjust for substructure in genetic summary data, improving the robustness and equity of research using diverse datasets.

The paper identifies genomic loci associated with achondroplasia-like facial variation in the general population using a syndrome-informed phenotyping approach.

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

This study identifies 565 genetic loci associated with sitting height ratio (SHR) in two populations, finding distinct genetic signals from height and highlighting ancestry-specific effects.

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

This paper clusters T2D genetic loci into ten groups using bNMF, identifying distinct biological mechanisms and clinical associations.

The paper develops a polygenic score incorporating rare and common variants to improve diabetes diagnosis using HbA1C levels, identifying more undiagnosed cases than chance.

The paper identifies variance-quantitative trait loci (vQTLs) and gene-environment interactions (GEIs) for cardiometabolic serum biomarkers using UK Biobank data.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

This study identifies over 400,000 CNVs in 3400 Bantu African children, highlighting common CNVs overlapping disease-associated genes and providing a large dataset for African ancestry CNV research.

The paper identifies differentially methylated loci in individuals with end-stage kidney disease due to diabetic kidney disease, linking them to key pathways and genes.

This study applies an improved GWAS strategy to age-related diseases, identifying new genetic loci by using multiple reference panels, analyzing the X chromosome, and testing non-additive models.

The paper identifies five novel gene-diet interaction effects on HbA1c using UK Biobank data, highlighting interactions with dietary patterns and traits.

The paper identifies BMI-associated metabolites using untargeted metabolomics and causal inference, finding both known and unknown metabolites with causal links to obesity.

The paper analyzes loss-of-function variants in LRRK2 across large genomic datasets to assess the safety of partial LRRK2 inhibition as a Parkinson's disease therapy.

The paper identifies 814 genetic loci associated with dietary habits using UK Biobank data and finds a causal link between education and dietary patterns.

This study identifies 16 genome-wide significant loci associated with diabetic kidney disease, including a protective variant in the COL4A3 gene.

This paper clusters T2D genetic loci using multi-trait associations to identify disease mechanisms and subtypes, finding distinct clinical outcomes linked to each cluster.