Article

Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders

2023-11-22

Abstract excerpt

<title>Abstract</title> <p>Rare disease patients often endure prolonged diagnostic odysseys and may still remain undiagnosed for years. Selecting the appropriate genetic tests is crucial to lead to timely diagnosis. Phenotypic features offer great potential for aiding genomic diagnosis in rare disease cases. We see great promise in effective integration of phenotypic information into genetic test selection workfl...

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Literature Corpus work: ed1e51b5-909b-5407-8c77-24f0c9bbda34
DOI: 10.21203/rs.3.rs-3593490/v1

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