Article

Solving the Diagnostic Odyssey with Synthetic Phenotype Data

2026-03-23

Abstract excerpt

The space of possible phenotype profiles over the Human Phenotype Ontology (HPO) is combinatorially vast, whereas the space of candidate disease genes is far smaller. Phenotype-driven diagnosis is therefore highly non-bijective: many distinct symptom profiles can correspond to the same gene, but only a small fraction of the theoretical phenotype space is biologically and clinically plausible. When a structured ont...

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Literature Corpus work: 377e881b-3bde-5020-9f20-afea38a5f933
DOI: 10.64898/2026.03.19.712946

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