Drew R. Neavin

Impact of Rare and Common Genetic Variation on Cell Type-Specific Gene Expression

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The primary sclerosing cholangitis and ulcerative colitis colonic mucosa defined through paired microbial and single-cell RNA sequencing

This study identifies distinct cellular and microbial profiles in PSC-UC and UC patients using single-cell and spatial transcriptomics, revealing shared and unique inflammatory mechanisms.

HLiCA: An integrated cell atlas of the healthy human liver

The paper integrates multiple datasets to create a comprehensive human liver cell atlas, identifying new cell types and associations with demographic factors.

Classification of indeterminate and off-target cell types within human kidney organoid differentiation

This study classifies off-target and indeterminate cell types in human kidney organoid differentiation using single-cell transcriptomics.

Federated single-cell QTL meta-analysis reveals novel disease mechanisms

The paper performs a federated cis-eQTL meta-analysis across single-cell datasets to identify cell-type-specific genetic effects and link them to disease mechanisms.

Protein Translation Dysregulation and Immune Cell Evasion Define Metastatic Clones in HPV-related Cancer of the Oropharynx

This study identifies mechanisms of immune evasion and metastasis in HPV-related oropharyngeal cancer using single-cell and spatial genomic data, showing dysregulated protein translation and immune pathway suppression in metastatic clones.

Genetic regulation of cell type-specific chromatin accessibility shapes immune function and disease risk

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

Demuxafy: Improvement in droplet assignment by integrating multiple single-cell demultiplexing and doublet detection methods

Demuxafy improves droplet assignment and doublet removal in scRNA-seq by combining multiple demultiplexing and doublet detection methods.

Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies

The paper identifies a shared genetic risk module involving PSEN2 and actin regulation across alpha-synucleinopathies, linking them to Alzheimer's disease mechanisms.

Village in a dish: a model system for population-scale hiPSC studies

The paper demonstrates that village cultures of hiPSCs maintain consistent transcriptional profiles across uni- and village-cultured samples, enabling population-scale studies.

Pitfalls and opportunities for applying PEER factors in single-cell eQTL analyses

This paper evaluates the use of PEER factors in single-cell eQTL analysis, showing that proper QC and transformation are needed to avoid spurious correlations and improve eQTL detection.

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.

This study identifies genetic and molecular differences in RPE cells from geographic atrophy patients compared to controls using transcriptomic and proteomic analyses.

DIRC3-IGFBP5 is a shared genetic risk locus and therapeutic target for carpal tunnel syndrome and trigger finger

The paper identifies DIRC3-IGFBP5 as a shared genetic risk locus for trigger finger and carpal tunnel syndrome, linking IGF-1 signaling to both diseases.

Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells

The paper identifies cell type-specific genetic control of gene expression in fibroblasts and iPSCs using single-cell RNA sequencing and eQTL mapping.

Alterations in Acylcarnitines, Amines, and Lipids Inform about Mechanism of Action of Citalopram/Escitalopram in Major Depression

The paper uses targeted metabolomics to analyze changes in acylcarnitines, amines, and lipids in response to citalopram/escitalopram treatment in MDD patients, identifying metabolic correlates of treatment response.