Anne Senabouth

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

The paper uses iPSC-derived RPE cells to compare molecular differences between AMD with and without reticular pseudodrusen, identifying distinct pathways and genetic influences.

The paper examines sex differences in the immune system at the single-cell level, identifying sex-biased genes and eQTLs linked to autoimmune diseases.

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.

The paper uses single-cell eQTL data to identify cell-type-specific effector genes associated with 69 diseases and 31 biomarker traits, revealing distinct immune cell contributions to disease.

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

The paper introduces MEOTIVE, a statistical framework to identify genetic effects on gene expression variability, revealing new mechanisms of genome regulation and associations with autoimmune disease risk.

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

This study uses gene knockouts and single-cell RNA sequencing to identify genetic networks contributing to elevated intraocular pressure in glaucoma.

This study uses single-cell transcriptomics to investigate Prox1's role in lymphatic endothelial cell fate specification and differentiation in zebrafish, identifying new transcriptional targets and regulatory mechanisms.

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

The paper uses scRNA-seq and flow cytometry to identify novel immune and epithelial cell populations in preschool CF patients' bronchoalveolar lavage.

This study uses iPSC-derived retinal organoids to identify retinal ganglion cell-specific expression quantitative trait loci associated with primary open-angle glaucoma.

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

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

This study compares the performance of BGI and Illumina sequencing technologies for single-cell RNA-sequencing, finding that BGI outperforms Illumina in cell and gene detection but similar in gRNA detection.

scSplit demultiplexes pooled single-cell RNA-Seq samples using genetic differences inferred from the data, showing high accuracy and consistency with known truths.

The paper generates a human neural retina transcriptome atlas using single-cell RNA sequencing, identifying 18 cell types and revealing a novel role for MALAT1 in rod degeneration.

ascend provides an R package for streamlined single-cell RNA-seq analysis, offering functions for filtering, normalization, clustering, and visualization.

This study identifies transcriptomic biomarkers in CD4+ and CD8+ T cells from GCA patients over 12 months, revealing gene-phenotype associations and potential prognostic indicators.

The paper identifies four transcriptionally distinct subpopulations in human induced pluripotent stem cells using single-cell RNA sequencing and develops a machine learning method to classify and predict transitions between these states.

The paper maps cardiac differentiation at single-cell resolution, identifies HOPX dysregulation, and shows hypertrophic signaling is required for HOPX transcription in hPSC-derived cardiomyocytes.

The paper characterizes the transcriptome of human stem cell-derived retinal ganglion cells using single-cell RNA sequencing, identifying three subpopulations with varying maturity levels.

The paper reconstructs cell fate trajectories in hiPSC-derived cardiomyocytes using single-cell RNA-seq and identifies genes with dynamic roles in cardiovascular disease risk.