Clinical Diagnosis of Rare Diseases Using Leaky Noisy-OR Bayesian Networks.

Abstract excerpt

This study presents a probabilistic method for the clinical diagnosis of rare diseases using leaky noisy-OR Bayesian networks automatically constructed from Orphanet and Human Phenotype Ontology data. The resulting model represents diseases and phenotypes as binary variables linked by causal probabilities derived from standardized annotations. Loopy belief propagation enables efficient approximate inference of...

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