Jason A. Flannick

Genomic atlas of cardiac and adiposity imaging phenotypes

The paper constructs a genomic atlas of cardiac and adiposity imaging phenotypes using whole-genome sequencing data from UK Biobank, identifying genetic associations and polygenic scores linked to cardiometabolic diseases.

PanKbase Integrated Single-Cell Map: A Comprehensive Atlas of Human Pancreatic Islets

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 Common Fund Data Ecosystem (CFDE)

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: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis

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.

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources

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.

Multi-ancestry proteome-phenome-wide Mendelian randomization offers a comprehensive protein-disease atlas and potential therapeutic targets

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

Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal

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.

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of multiple cardiovascular disease risk factors

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

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.

Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs

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

A combined polygenic score of 21,293 rare and 22 common variants significantly improves diabetes diagnosis based on hemoglobin A1C levels

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

An Effector Index to Predict Causal Genes at GWAS Loci

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 Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology

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

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

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.

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

The paper shows that a loss-of-function variant in ZnT8 improves insulin secretion and protects against type 2 diabetes by enhancing glucose responsiveness and proinsulin conversion.

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

Clustering of Type 2 Diabetes Genetic Loci by Multi-Trait Associations Identifies Disease Mechanisms and Subtypes

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

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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

A Comprehensive Reanalysis Of Publicly Available GWAS Datasets Reveals An X Chromosome Rare Regulatory Variant Associated With High Risk For Type 2 Diabetes.

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.

Evolutionary and functional data power search for obsessive-compulsive disorder genes

The paper identifies OCD-associated genes by combining evolutionary and functional data with targeted sequencing in humans and animal models.