Instruct: Identify the main category of Biorxiv papers based on the titles and abstracts
Query: Retinal ganglion cell-specific genetic regulation in primary open angle glaucoma To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glaucoma (POAG) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into retinal organoids and compared to those from healthy individuals. We performed single-cell RNA-sequencing of a total of 330,569 cells and identified cluster-specific molecular signatures. Comparing the gene expression profile between cases and controls, we identified novel genetic associations for this blinding disease. Expression quantitative trait mapping identified a total of 2,235 significant loci across all cell types, 58 of which are specific to the retinal ganglion cell subpopulations, which ultimately degenerate in POAG. Transcriptome-wide association analysis identified genes at loci previously associated with POAG, and analysis, conditional on disease status, implicated 54 statistically significant retinal ganglion cell-specific expression quantitative trait loci. This work highlights the power of large-scale iPSC studies to uncover context-specific profiles for a genetically complex disease.
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The categories of this paper are: pathology
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The categories of this paper are: genomics
1
The categories of this paper are: bioinformatics
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The categories of this paper are: scientific
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The categories of this paper are: biophysics
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The categories of this paper are: cognition
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The categories of this paper are: immunology
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The categories of this paper are: and
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The categories of this paper are: cancer
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The categories of this paper are: ecology
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The categories of this paper are: developmental
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The categories of this paper are: behavior
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The categories of this paper are: communication
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The categories of this paper are: molecular
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The categories of this paper are: education
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The categories of this paper are: microbiology