Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology

The Human Phenotype Ontology (HPO) is the de facto standard ontology to describe human phenotypes in detail, and it is actively used, particularly in the field of rare disease diagnoses. For clinicians who are not fluent in English, the HPO has been translated into many languages, and there have bee...

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Main Authors: Kota Ninomiya, Terue Takatsuki, Tatsuya Kushida, Yasunori Yamamoto, Soichi Ogishima
Format: Article
Language:English
Published: BioMed Central 2020-06-01
Series:Genomics & Informatics
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Online Access:http://genominfo.org/upload/pdf/gi-2020-18-2-e23.pdf
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author Kota Ninomiya
Terue Takatsuki
Tatsuya Kushida
Yasunori Yamamoto
Soichi Ogishima
author_facet Kota Ninomiya
Terue Takatsuki
Tatsuya Kushida
Yasunori Yamamoto
Soichi Ogishima
author_sort Kota Ninomiya
collection DOAJ
description The Human Phenotype Ontology (HPO) is the de facto standard ontology to describe human phenotypes in detail, and it is actively used, particularly in the field of rare disease diagnoses. For clinicians who are not fluent in English, the HPO has been translated into many languages, and there have been four initiatives to develop Japanese translations. At the Biomedical Linked Annotation Hackathon 6 (BLAH6), a rule-based approach was attempted to determine the preferable Japanese translation for each HPO term among the candidates developed by the four approaches. The relationship between the HPO and Mammalian Phenotype translations was also investigated, with the eventual goal of harmonizing the two translations to facilitate phenotype-based comparisons of species in Japanese through cross-species phenotype matching. In order to deal with the increase in the number of HPO terms and the need for manual curation, it would be useful to have a dictionary containing word-by-word correspondences and fixed translation phrases for English word order. These considerations seem applicable to HPO localization into other languages.
format Article
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institution Kabale University
issn 2234-0742
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publishDate 2020-06-01
publisher BioMed Central
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series Genomics & Informatics
spelling doaj-art-a0f7b99ea6084020af0243d1185b1c972025-02-02T14:16:10ZengBioMed CentralGenomics & Informatics2234-07422020-06-01182e2310.5808/GI.2020.18.2.e23614Choosing preferable labels for the Japanese translation of the Human Phenotype OntologyKota Ninomiya0Terue Takatsuki1Tatsuya Kushida2Yasunori Yamamoto3Soichi Ogishima4 National Institute of Public Health, Wako 351-0197, Japan Database Center for Life Science, Research Organization of Information and Systems, Kashiwa 277-0871, Japan BioResource Research Center, RIKEN, Tsukuba 305-0074, Japan Database Center for Life Science, Research Organization of Information and Systems, Kashiwa 277-0871, Japan Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai 980-8573, JapanThe Human Phenotype Ontology (HPO) is the de facto standard ontology to describe human phenotypes in detail, and it is actively used, particularly in the field of rare disease diagnoses. For clinicians who are not fluent in English, the HPO has been translated into many languages, and there have been four initiatives to develop Japanese translations. At the Biomedical Linked Annotation Hackathon 6 (BLAH6), a rule-based approach was attempted to determine the preferable Japanese translation for each HPO term among the candidates developed by the four approaches. The relationship between the HPO and Mammalian Phenotype translations was also investigated, with the eventual goal of harmonizing the two translations to facilitate phenotype-based comparisons of species in Japanese through cross-species phenotype matching. In order to deal with the increase in the number of HPO terms and the need for manual curation, it would be useful to have a dictionary containing word-by-word correspondences and fixed translation phrases for English word order. These considerations seem applicable to HPO localization into other languages.http://genominfo.org/upload/pdf/gi-2020-18-2-e23.pdfbiological ontologiesnatural language processingphenotyperare diseasestranslations
spellingShingle Kota Ninomiya
Terue Takatsuki
Tatsuya Kushida
Yasunori Yamamoto
Soichi Ogishima
Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
Genomics & Informatics
biological ontologies
natural language processing
phenotype
rare diseases
translations
title Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
title_full Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
title_fullStr Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
title_full_unstemmed Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
title_short Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
title_sort choosing preferable labels for the japanese translation of the human phenotype ontology
topic biological ontologies
natural language processing
phenotype
rare diseases
translations
url http://genominfo.org/upload/pdf/gi-2020-18-2-e23.pdf
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AT yasunoriyamamoto choosingpreferablelabelsforthejapanesetranslationofthehumanphenotypeontology
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