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Integrating Genomics and Deep Phenotyping for Diagnosing Rare Pediatric Neurological Diseases: Potential for Sustainable Healthcare

2025-06-30

Abstract excerpt

<h4>Background: </h4> Rare pediatric neurological diseases (RPND) often elude timely diagnosis, resulting in prolonged and costly diagnostic odysseys. Integration of Human Phenotype Ontology (HPO)-based deep phenotyping with exome sequencing (ES) and reverse phe-notyping may improve diagnostic yield and efficiency, especially in resource-limited set-tings. <h4>Objectives:</h4> To assess the diagnostic yield and cl...

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Literature Corpus work
7c94fa41-1ff8-5205-836a-1f36eeee34fd
DOI
10.20944/preprints202506.2423.v1
Open publication

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Integrating Genomics and Deep Phenotyping for Diagnosing Rare Pediatric Neurological Diseases: Potential for Sustainable HealthcareDOI 10.20944/preprints202506.2423.v1
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