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Raby, B.

Publications and source records attributed to Raby, B..

2 recordsLinked to original sources

Single Cell RNA-seq reveals ectopic and aberrant lung resident cell populations in Idiopathic Pulmonary Fibrosis

We provide a single cell atlas of Idiopathic Pulmonary Fibrosis (IPF), a fatal interstitial lung disease, focusing on resident lung cell populations. By profiling 312,928 cells from 32 IPF, 29 healthy control and 18 chronic obstructive pulmonary disease (COPD) lungs, we demonstrate that IPF is characterized by changes in discrete subpopulations of cells in the three major parenchymal compartments: the epithelium, endothelium and stroma. Among epithelial cells, we identify a novel population of IPF enriched aberrant basaloid cells that co-express basal epithelial markers, mesenchymal markers, senescence markers, developmental transcription factors and are located at the edge of myofibroblast foci in the IPF lung. Among vascular endothelial cells in the in IPF lung parenchyma we identify an expanded cell population transcriptomically identical to vascular endothelial cells normally restricted to the bronchial circulation. We confirm the presence of both populations by immunohistochemistry and independent datasets. Among stromal cells we identify fibroblasts and myofibroblasts in both control and IPF lungs and leverage manifold-based algorithms diffusion maps and diffusion pseudotime to infer the origins of the activated IPF myofibroblast. Our work provides a comprehensive catalogue of the aberrant cellular transcriptional programs in IPF, demonstrates a new framework for analyzing complex disease with scRNAseq, and provides the largest lung disease single-cell atlas to date.

genomics

The periphery and the core properties explain the omnigenic model in the human interactome

Understanding the connectivity patterns of genes in a localized disease neighborhood or disease module in a molecular interaction network (interactome) is a key step toward advancing the knowledge about molecular mechanisms underlying a complex disease. In this work, we introduce a framework that detects peripheral and core regions of a disease in the human interactome. We leverage gene expression data on 104 diseases and analyze the connectivity of differentially expressed genes (quantified by a p-value < 0.05) and their topological membership in the network to distinguish between peripheral and core genes. Per definition, peripheral and core genes are topologically different and we show that they also differ biologically. Core genes are more enriched for Genome-wide association study (GWAS) and Online Mendelian Inheritance in Man (OMIM) data, whereas peripheral genes are more shared across different disease states and their overlap helps predict disease proximity in the human interactome. Based on this observation, we propose a flower model to explain the organization of genes in the human interactome, with core genes of different diseases as the petals and the peripheral genes as the (shared) stem. We show that this network model is an important step towards finding novel drug targets and improving disease classification. Overall, we were able to demonstrate how perturbations percolate through the human interactome and contribute to peripheral and core regions, an important novel feature of the omnigenic model.

systems biology