Benjamin B. Sun

This study identifies a genetic association between thromboembolism risk and long COVID in individuals of European ancestry, suggesting thromboembolism as a potential contributor to long COVID pathogenesis.

The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

The paper shows that imputing DNA methylation loci from epigenome-wide data provides stronger associations with smoking and age than directly measured CpGs.

This study identifies gene-environment interactions affecting plasma proteins in UK Biobank, discovering 683 vQTLs and over 1,400 GEIs across 571 proteins.

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

isGWAS enables fast and scalable genetic association analysis using cohort-level summary data, achieving speeds up to 1500 times faster than existing methods.

This study identifies six genes associated with hand grip strength using rare protein-coding variants in 340,319 individuals and shows additive effects with common variants.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.

This study identifies 388 genetic associations with regional brain sulcal morphology using UK Biobank data, highlighting gene expression and eQTL patterns and providing a 3D visualization resource.

This paper introduces HyPrColoc, a Bayesian algorithm for multi-trait colocalization using GWAS summary statistics, identifying 43 regions where coronary heart disease colocalizes with other traits.

This paper uses Mendelian randomization and colocalization to identify causal relationships between plasma proteins and disease phenotypes, finding 111 putatively causal effects.

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

The paper investigates the effect of the IL6R-Asp358Ala variant on AAA growth and evaluates IL-6 pathway blockade in mouse models, finding no significant growth rate reduction but improved survival with trans-signalling inhibition.

ProGeM prioritizes candidate causal genes at molecular QTLs by integrating biological and genome annotations, achieving high accuracy in identifying true positives.

The paper identifies 1,927 genetic associations with 1,478 plasma proteins using 10.6 million DNA variants and 3,301 individuals, revealing new drug targets and safety concerns.