HPO2TISSUE data bundle v0.1.0
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资源简介：
Shiny application and R toolkit that translates a set of Human Phenotype Ontology (HPO) terms, OMIM/ORPHA disease identifiers, or an arbitrary gene list into actionable RNA-seq design choices, differential diagnoses, and novel-candidate predictions. The pipeline includes singscore against GTEx (v11) and Tabula Sapiens (v2, tissue + cell-type level) backends, IC-Jaccard plus Phenomizer/Resnik MICA differential diagnosis, Random Walk with Restart over 13 evidence networks ("GLOWgenes" method, de la Fuente et al. 2023), STRING physical PPI modules, GTEx and Tabula Sapiens co-expression, Reactome pathway enrichment, gnomAD constraint metrics, MGI mouse-KO phenotype lookup, and a precomputed PanelApp panel comparison.
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Zenodo创建时间：
2026-06-10
