Article

PhenoID, a language model normalizer of physical examinations from genetics clinical notes

2023-10-17

Abstract excerpt

<h4>A bstract </h4> <h4>Background</h4> Phenotypes identified during dysmorphology physical examinations are critical to genetic diagnosis and nearly universally documented as free-text in the electronic health record (EHR). Variation in how phenotypes are recorded in free-text makes large-scale computational analysis extremely challenging. Existing natural language processing (NLP) approaches to address phenotype...

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Literature Corpus work: 2392cdbb-6512-5b90-bfe9-a1562a40a87b
DOI: 10.1101/2023.10.16.23296894

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