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Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations
2026-01-17
genetic and genomic medicine
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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 phenotypically similar diagnosed patients by comparing an undiagnosed patients dise...
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