YoSon Park

MetaboXcan: A multiomic framework linking genetically predicted metabolites, gene expression, and complex traits

MetaboXcan predicts plasma metabolites from genetic data and associates them with complex traits, identifying disease risk genes and metabolites in chronic kidney disease.

SPAG7 deletion causes intrauterine growth restriction, resulting in adulthood obesity and metabolic dysfunction

This study identifies SPAG7 gene mutations in mice causing intrauterine growth restriction and adult obesity through reduced energy expenditure and mitochondrial dysfunction.

Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels

The paper identifies cell-type specific splicing quantitative trait loci (sQTLs) in iPSCs and HLCs and shows they contribute to lipid level variation beyond what is captured by gene expression alone.

Systematic assessment of regulatory effects of human disease variants in pluripotent cells

The paper maps regulatory effects of human disease variants in pluripotent cells, identifying cis- and trans-QTL across 18,556 genes and linking them to GWAS traits.

Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

The paper uses GTEx data to analyze GWAS loci, showing dose-dependent RNA effects and proposing target genes for 47% of loci using combined methods.

Correcting for experiment-specific variability in expression compendia can remove underlying signals

The paper simulates gene expression compendia to show that technical variability masks biological signals, but correction methods help when few experiments are combined, while more experiments make detection easier without correction.

Cell type specific genetic regulation of gene expression across human tissues

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

PhenomeXcan integrates GWAS and transcriptomic data to identify gene-trait associations, providing a resource for translational research with biological context.

Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx

The paper assesses the impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx, finding that local ancestry adjustment improves power but has limited effect on colocalization probabilities.

Determinants of telomere length across human tissues

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

A Quantitative Proteome Map of the Human Body

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.

Genetic And Epigenetic Fine Mapping Of Complex Trait Associated Loci In The Human Liver

The paper fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.

RNA-binding protein A1CF modulates plasma triglyceride levels through posttranscriptional regulation of stress-induced VLDL secretion

This study identifies A1CF as a regulator of plasma triglycerides through posttranscriptional control of VLDL secretion and intracellular stress pathways.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

Transposable element exaptation is the primary source of novelty in the primate gene regulatory landscape

The paper identifies transposable elements as the main source of novelty in primate gene regulation by analyzing conserved and newly evolved cis-regulatory elements across six primate species.