Karen L. Mohlke

The paper maps cell type-specific genetic effects on nucleosome-free regions and nucleosome occupancy using snATAC-seq data from human muscle biopsies, showing causal relationships between these elements and GWAS traits.

The paper identifies age-associated changes in the skeletal muscle epigenome and transcriptome, revealing shifts in chromatin accessibility and gene expression linked to metabolic and senescence pathways.

The paper identifies dysregulated pathways and candidate driver genes in skeletal muscle from individuals with type 2 diabetes using co-expression networks and single-nucleus RNA-seq data.

The paper uses donor-matched iPSC-derived FAPs to show that T2D GWAS signals are enriched in adipogenic FAP subtypes under high-insulin exposure.

The paper shows larger eQTL studies detect more signals that colocalize with GWAS signals, improving understanding of gene-trait relationships.

The paper uses single-nucleus multiome sequencing to identify cell-type-specific regulatory mechanisms for cardiometabolic traits by integrating QTLs and GWAS signals.

The paper examines how physical activity and insulin resistance relate to skeletal muscle cell type abundance and gene expression in humans, finding inverse associations with specific cell types and gene expression patterns.

The paper identifies genes associated with obesity risk loci by integrating genetic and transcriptomic data from blood and brain tissues.

The paper identifies OA risk genes by integrating eQTLs, chromatin accessibility, and 3D chromatin structure in human chondrocytes, revealing 13 putative risk genes, 10 of which are novel.

The paper performs population-scale single-nucleus multi-omic profiling of skeletal muscle to identify genetic regulation across cell types and traits.

The paper identifies additional eQTL signals in adipose tissue and shows they contribute to cardiometabolic traits through gene dosage effects.

The paper identifies context-specific genetic effects on gene regulation in neural progenitors by stimulating the Wnt pathway and analyzing chromatin accessibility and gene expression.

The paper identifies 56 putative OA risk genes by integrating GWAS, chromatin structure, and RNA-seq data in chondrocytes, with SOCS2 as a novel target gene.

The paper examines the association between adipose tissue ACE2 expression and cardio-metabolic risk factors, finding lower ACE2 levels linked to T2D, obesity, and inflammation-related cell type changes.

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

The paper integrates snATAC-seq and snRNA-seq data from human and rat skeletal muscle to identify cell types, regulatory elements, and SNPs associated with complex traits.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

The paper introduces MiniMUGA, a genotyping array for mouse genetic QC, showing it effectively discriminates strains, detects genetic constructs, and identifies sex chromosome abnormalities.

The paper investigates how genetic variants affect gene expression in human pancreatic islets and identifies candidate genes linked to type 2 diabetes.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

The paper compares regression, IPW, and g-formula methods for estimating exposure effects on gene expression, applying them to assess smoking's impact on adipose tissue gene expression.

The paper introduces SMUT, a method to test mediation effects of multiple SNPs on phenotypes, showing improved power and identifying known mediators in a real dataset.

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

The paper quantifies the overlap between GWAS genes for 62 complex traits and Mendelian disorder genes, finding significant enrichment and elevated effect sizes for phenotypically-matched genes.

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

The paper identifies DNA methylation associations with metabolic syndrome traits in adipose tissue and develops a biomarker for type II diabetes risk.