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Identification of cell type-specific gene targets underlying thousands of rare diseases and subtraits

2023-02-17 genetic and genomic medicine Title + abstract only
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Rare diseases (RDs) are an extremely heterogeneous and underserved category of medical conditions. While the majority of RDs are strongly genetic, it remains largely unknown via which physiological mechanisms genetics cause RD. Therefore, we sought to systematically characterise the cell type-specific mechanisms underlying all RD phenotypes with a known genetic cause by leveraging the Human Phenotype Ontology and transcriptomic single-cell atlases of the entire human body from embryonic, foetal,...

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