Georgios Voloudakis

GROMTools, a sparse-weight C++/R engine streaming PLINK2 genotypes, reproduces PrediXcan and PLINK2 GReX imputations with about 100-fold less CPU time and 33-fold less peak memory.

The paper introduces dreamlet, an R package for efficient differential expression analysis of large-scale single-cell transcriptomics data, showing improved speed and memory usage compared to existing methods.

This study performs a single-nucleus transcriptome-wide association study to identify gene-trait associations in brain disorders, revealing cell-type-specific genetic regulation and ancestry-specific patterns.

The paper constructs a single-nucleus atlas of genetic regulation in the human brain, identifying cell-type-specific regulatory effects and disease-associated genes.

The paper profiles human myeloid cells across aging and Alzheimer's disease, identifies AD-associated changes, and links GPNMB to neuroprotection via TREM2.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper constructs a single-cell transcriptomic atlas of the human dorsolateral prefrontal cortex across neurodegenerative and neuropsychiatric diseases, revealing shared and distinct molecular mechanisms.

This paper models diagnostic code dropout in EHR data to improve phenotyping for schizophrenia, enhancing polygenic score transferability across ancestries.

This paper presents a computational drug repurposing framework that identifies FDA-approved drugs for COVID-19 by integrating genetic expression data and EMR data, finding four compounds with protective effects in validation.

This study profiles small RNAs in schizophrenia and bipolar disorder, finding altered sncRNA abundance and links to accelerated aging and key biological processes.

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

This study creates a single-nucleus transcriptomic atlas of the human DLPFC across the lifespan, revealing three transcriptomic phases and ten age-related trajectories linked to neurodevelopmental and neurodegenerative disease risk.

Population-stratified GWAS of 2,068 traits in 635,969 Million Veteran Program participants, 29% genetically non-European, yields 98,485 associations and 57,601 fine-mapped signals with largely shared cross-population architecture.

This study uses EHR data to estimate TRD probability and identifies two genome-wide significant loci linked to metabolic traits, suggesting shared biology with related conditions.

This study identifies 240 novel genetic loci associated with mosaic loss of chromosome Y through a multi-ancestry GWAS of the Million Veteran Program and UK Biobank.

This study identifies 64 new risk loci for major depression, refines its genetic architecture, and shows strong genetic overlap with other psychiatric disorders and educational attainment.

This paper introduces PheMED, a tool to quantify effect size dilution in GWAS due to phenotypic misclassification, and demonstrates its applications in improving meta-analysis.

This study identifies genetic overlaps between psychiatric disorders, language ability, and creativity through a GWAS of school grades.

This study maps chromatin accessibility in Alzheimer's disease using ATAC-seq, identifying regulatory changes and 3D genomic alterations linked to disease.

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

The paper identifies IL10RB as a key regulator of COVID-19 host susceptibility and severity through integrative analysis of genetic and transcriptomic data, and validates potential drug repositioning candidates.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

This study shows that schizophrenia risk genes have convergent and non-additive transcriptomic effects when perturbed together in human neurons, suggesting functional redundancy and complex interactions.

The paper validates polygenic risk scores for schizophrenia, bipolar disorder, and depression using VA EHR data and shows their association with disease risk and hospitalization.

This study identifies 557 new gene-trait associations for hematological traits using transcriptome-wide association analysis in UK Biobank data.

The paper analyzes single-nucleus transcriptomes from brain regions of COVID-19 patients to show increased neuroinflammation and microglial transcriptome changes, without evidence of viral brain tropism.

This study integrates transcriptome data with genetic variation to identify gene-trait associations and uncover biological mechanisms underlying complex traits in humans and mice.