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A Clinical Knowledge Graph-Based Framework to Prioritize Candidate Genes for Facilitating Diagnosis of Mendelian Diseases and Rare Genetic Conditions

Rohan Gnanaolivu, Gavin Oliver,Garrett Jenkinson, Emily Blake, Wenan Chen,Nicholas Chia,Eric W. Klee,Chen Wang

BMC Bioinformatics（2025）

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关键词
Knowledge graph,Rare disease,Gene prioritization,Human Phenotype Ontology
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