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Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.

Artificial intelligence in medicine - 1 May 2023

Daniali Maryam, Galer Peter D, Lewis-Smith David, Parthasarathy Shridhar, Kim Edward, Salvucci Dario D, Miller Jeffrey M, Haag Scott, Helbig Ingo

Abstract excerpt

The Human Phenotype Ontology (HPO) is a dictionary of >15,000 clinical phenotypic terms with defined semantic relationships, developed to standardize phenotypic analysis. Over the last decade, the HPO has been used to accelerate the implementation of precision medicine into clinical practice. In addition, recent research in representation learning, specifically in graph embedding, has led to notable progress in...

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PMID: 37100502
DOI: 10.1016/j.artmed.2023.102523
PMCID: PMC10782859

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