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

2026-02-17

Abstract excerpt

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 Orphanet’s hierarchical classifications. We present a phenotype-based computational pipeline that ranks can...

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Literature Corpus work
1f5b0217-ee68-558a-b16a-800a4aa789a5
DOI
10.64898/2026.02.15.26346357
Open publication

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Combining phenotypic similarity and network propagation to improve performance and clinical consistency of rare disease diagnosisDOI 10.64898/2026.02.15.26346357
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