Noël P. Burtt

PEGASUS defines a community reporting standard for GWAS predicted effector genes: a metadata record, a full locus-by-gene evidence matrix, and a derived author-prioritised gene list.

The paper integrates multiple scRNA-seq datasets to create a comprehensive atlas of human pancreatic islets, identifying 13 cell populations and providing a resource for diabetes research.

The paper describes the Common Fund Data Ecosystem (CFDE), which integrates NIH Common Fund data resources to enable discovery, analysis, and collaboration across heterogeneous datasets.

GWASHub is a cloud-based platform for GWAS meta-analysis that automates data handling, QC, and analysis workflows to improve reproducibility and reduce researcher burden.

The paper introduces the Neurodegenerative Disease Knowledge Portal (NDKP), an open-science platform aggregating genomic datasets for neurodegenerative diseases to enable collaborative analysis and discovery.

This study uses proteome-phenome-wide Mendelian randomization across three ancestries to identify protein-phenotype associations and potential therapeutic targets.

The paper introduces the T1D Knowledge Portal, a resource for querying genetic and functional data related to type 1 diabetes to aid in hypothesis generation and target discovery.

The paper identifies high-resolution eQTLs in kidney tissues using Bayesian fine mapping with integrative priors, improving resolution and functional relevance.

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

The paper introduces the Effector Index, an algorithm to predict causal genes at GWAS loci using genomic features, achieving 85% AUC in type 2 diabetes validation.

The paper introduces the Lipid Droplet Knowledge Portal, a resource integrating datasets on lipid droplet biology to uncover new determinants of lipid storage.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

This study identifies 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.