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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...

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Bibliografiske detaljer
Udgivet i:Database (Oxford)
Main Authors: Collier, Nigel, Groza, Tudor, Smedley, Damian, Robinson, Peter N., Oellrich, Anika, Rebholz-Schuhmann, Dietrich
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4622021/
https://ncbi.nlm.nih.gov/pubmed/26507285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/database/bav104
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