PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

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PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

Analysis of scientific and clinical phenotypes reported in the experimental literature has been curated manually to build high-quality databases such as the Online Mendelian Inheritance in Man (OMIM). However, the identification and harmonization of phenotype descriptions struggles with the diversity of human expressivity. We introduce a novel automated extraction approach called PhenoMiner tha...

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ژورنال

عنوان ژورنال: Database

سال: 2015

ISSN: 1758-0463

DOI: 10.1093/database/bav104