Article

A Knowledge Graph Analytical Platform for Facial Phenotype-Genotype-Disease Associations in Rare Genetic Diseases

2025-06-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Distinctive facial phenotypes are crucial diagnostic clues for rare genetic diseases. However, diagnosing these diseases is challenging due to low prevalence, phenotypic heterogeneity, and complex genotype-phenotype relation- ships. Current diagnostic aids like relational databases and deep learning models suffer from limitations in data connectivity and interpr...

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Literature Corpus work: 79d2e3aa-92a0-536c-b2f6-2dda6065033a
DOI: 10.21203/rs.3.rs-6601903/v1

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