Article

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis

2020-11-24

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient’s phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating terms used to prioritize genes potentially causing the patient’s disease. We have developed GenomeDiver to provide a user interface for clinicians that...

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Literature Corpus work: f2a34bf9-43fe-5cc2-8b5b-348ab04f19dc
DOI: 10.1101/2020.11.22.20236430

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