Ellen A. Tsai

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper identifies highly cell-type-specific eQTLs using snRNA-seq data from brain and blood, showing that bulk analyses overestimate eQTL agreement.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

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.

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

The paper constructs a cross-ancestry, cell-type-informed gene regulatory atlas of the developing human brain, identifying genetic regulation and linking it to neuropsychiatric disorders.

The paper integrates brain RNA-seq and genotype data to identify eQTLs and their downstream effects on brain-related diseases.

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.

PWCoCo improves genetic colocalisation by integrating conditional and colocalisation analyses, enabling robust detection of independent signals and secondary loci in high-dimensional omics data.

This paper introduces PICALO, a method to identify unknown contexts influencing eQTLs, finding 31 and 21 PICs in blood and brain datasets, respectively, associated with cell type, RNA quality, and environmental factors.

This study examines the impact of rare protein-truncating variants on human lifespan using whole-exome sequencing data from the UK Biobank, identifying significant associations with several genes.

This paper identifies seven genome-wide significant loci associated with early neurological instability after acute ischemic stroke, linking excitotoxic genes to poor outcomes.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

The paper analyzes whole exome sequencing data from the UK Biobank to identify rare coding variants associated with major depressive disorder and reveals genetic overlaps with other psychiatric disorders.

The paper identifies genetic and RNAi-based pairwise interactions between lipid-related genes that modulate plasma and cellular lipid levels, suggesting potential drug target pairs for lipid-lowering therapies.

This study performs exome sequencing in 100 patients with isolated biliary atresia to identify genetic variants, finding no common causal genes but a de novo mutation in STIP1.