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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 diversit...
Autores principales: | Collier, Nigel, Groza, Tudor, Smedley, Damian, Robinson, Peter N., Oellrich, Anika, Rebholz-Schuhmann, Dietrich |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622021/ https://www.ncbi.nlm.nih.gov/pubmed/26507285 http://dx.doi.org/10.1093/database/bav104 |
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