Article

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases

2023-02-17

Abstract excerpt

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...

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Literature Corpus work: 16a9dcd9-a7ec-541d-8671-2d25816d766e
DOI: 10.1101/2023.02.13.23285820

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