Daniel D. Seaton

This paper analyzes 100,526 GWAS to identify pleiotropic genes and their therapeutic implications, finding that highly pleiotropic genes are associated with safety liabilities and that combining PAV support with intermediate pleiotropy improves therapeutic success.

The paper evaluates the transportability of in-vitro gene perturbation models to in-vivo human phenotypes using CRISPR data and UK Biobank, finding some models are predictive while others are not.

This study compares eQTL discovery in African and European ancestry cohorts, finding more eQTLs in African samples and improved GWAS variant-to-gene mapping using African eQTLs.

The paper updates a circadian clock model for Arabidopsis to predict phenotype effects of gene mis-regulation using metabolic and physiological data.

The paper uses single-cell RNA sequencing to study genetic variant effects on dopaminergic neuron differentiation from iPSCs, identifying eQTL and cell fate markers.

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.

The paper characterizes proteome variation across 202 human iPSC lines, identifies 700 pQTLs, and links pQTLs to disease-associated GWAS variants.

The paper examines how structural variants and short tandem repeats affect gene expression and complex traits, identifying high-impact variants associated with multiple genes and GWAS traits.

The paper discovers and genotypes a comprehensive set of structural variants and short tandem repeats using multiple algorithms and replicates, creating a well-characterized map of these variants.

The paper shows that erosion of X chromosome inactivation in human iPSCs leads to increased protein expression from X-linked and autosomal genes, altering protein-RNA correlations and increasing protein content.

The paper uses single-cell RNA-seq of differentiating iPS cells from 125 donors to identify expression quantitative trait loci influencing gene expression during endoderm differentiation.