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Combining phenotypic similarity and network propagation to improve performance and clinical consistency of rare disease diagnosis

2026-02-17 health informatics Title + abstract only
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Achieving timely diagnosis for rare diseases remains challenging due to, among others, phenotypic heterogeneity and incomplete clinical data. While the Solve-RD project developed a phenotype-based gene prioritisation method, this approach did not account for the clinical consistency among related diseases in Orphanets hierarchical classifications. We present a phenotype-based computational pipeline that ranks candidate ORPHAcodes based on patient phenotypes. The pipeline computes patient-diseas...

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