Article

Harnessing generative AI to annotate the severity of all phenotypic abnormalities within the Human Phenotype Ontology

2024-06-11

Abstract excerpt

0.1 There are thousands of human phenotypes which are linked to genetic variation. These range from the benign (white eyelashes) to the deadly (respiratory failure). The Human Phenotype Ontology has categorised all human phenotypic variation into a unified framework that defines the relationships between them (e.g. missing arms and missing legs are both abnormalities of the limb). This has made it possible to perf...

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Literature Corpus work: 1303484b-dc81-5880-a0a6-713c00b008cb
DOI: 10.1101/2024.06.10.24308475

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