Michael J. Gloudemans

A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes

This study identifies novel causal genes for NAFLD using a combination of GWAS, genetic colocalization, and CRISPRi functional screens.

Transcriptomics and chromatin accessibility in multiple African population samples

The paper identifies novel transcripts, eQTLs, and caQTLs in African populations and fine-maps GWAS signals for complex diseases.

CROP-Seq: a single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes

CROP-Seq uses CRISPRi and scRNA-Seq to screen gene targets in adipocytes, identifying gene knock-down effects and novel regulators of adipogenesis and metabolic disease.

Integration of rare large-effect expression variants improves polygenic risk prediction

This study integrates rare large-effect expression variants into polygenic risk scores, showing improved prediction of complex traits by including these variants in risk assessment.

Multiple Causal Variants Underlie Genetic Associations in Humans

This study identifies multiple causal variants underlying genetic associations in humans using MPRA and eQTL data.

Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes

The paper integrates genetic colocalizations with physiological and pharmacological perturbations to identify causal genes for cardiometabolic diseases.

An integrated approach to identify environmental modulators of genetic risk factors for complex traits

The paper identifies environmental modulators of genetic risk factors for complex traits by integrating perturbation data with GWAS.

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.

Single-cell epigenomic identification of inherited risk loci in Alzheimer's and Parkinson's disease

The paper uses single-cell epigenomic data to identify functional SNPs associated with Alzheimer's and Parkinson's disease, revealing novel gene-disease associations and regulatory mechanisms.

A vast resource of allelic expression data spanning human tissues

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

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.

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.

Ocular disease mechanisms elucidated by genetics of human fetal retinal pigment epithelium gene expression

This study identifies fRPE-specific genes and variants associated with AMD and myopia, revealing novel e/sQTL and mechanisms linking a common variant to both diseases.

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

The paper analyzes gene expression and splicing changes in human aging using longitudinal RNA sequencing data from the PIVUS study, finding stability in most genetic regulation but dynamic changes in a subset of genes.

Genetic regulatory mechanisms of smooth muscle cells map to coronary artery disease risk loci

The paper identifies five genes modulating coronary artery disease risk through smooth muscle cells by integrating eQTL and GWAS data with transcriptomic and epigenomic analyses.

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.