David A. Jakubosky

Analysis of regulatory network modules in hundreds of human stem cell lines reveals complex epigenetic and genetic factors contribute to pluripotency state differences between subpopulations

The paper identifies regulatory network modules in human stem cells, showing epigenetic and genetic factors influence pluripotency state differences.

eQTL mapping in fetal-like pancreatic progenitor cells reveals early developmental insights into diabetes risk

The paper maps eQTLs in fetal-like pancreatic progenitor cells, identifying regulatory variants that influence diabetes risk by affecting gene expression and splicing in early development.

Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease

This study identifies causal genetic variants for cardiac traits by integrating spatiotemporal eQTL analysis with GWAS data, showing stage- and tissue-specific effects.

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.

Genomic properties of structural variants and short tandem repeats that impact gene expression and complex traits in humans

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.

Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats

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.

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

This study systematically analyzes the MHC region to uncover genetic associations between HLA types, gene expression, and disease, revealing novel insights into disease mechanisms.

Integration of phased Hi-C and molecular phenotype data to study genetic and epigenetic effects on chromatin looping

The paper investigates how genetic and epigenetic factors influence chromatin looping strength across cell types and haplotypes, finding that loop strength changes correlate with significant gene expression differences.

Insights into the mutational burden of human induced pluripotent stem cells using an integrative omics approach

This study analyzes the mutational burden in human iPSCs using whole genome sequencing and integrates transcriptome and epigenome data to identify mutation patterns and their impact on gene expression.