Article

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations

2026-01-17

Abstract excerpt

Diagnostic tools for rare diseases typically rely on curated gene-phenotype associations and static disease models, limiting their effectiveness in cases with atypical presentations or previously uncharacterized disorders. To address these limitations, we present SimPheny, a phenotype-first algorithm for gene prioritization that operates independently of documented gene-phenotype associations. SimPheny identifies...

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Literature Corpus work: 5fa20d68-d52f-556b-abf9-1a66b5a32f40
DOI: 10.64898/2026.01.15.26344236

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