Mapping protein information to disease terminologies

In order to improve the accessibility of genomic and proteomic information to medical researchers, we have developed a procedure to link biological information on proteins involved in diseases to the MeSH and ICD-10 disease terminologies. For this purpose, we took advantage of the manually curated d...

Full description

Bibliographic Details
Main Authors: Mottaz Anaïs, Yip Yum L., Ruch Patrick, Veuthey Anne-Lise
Format: Article
Language:English
Published: De Gruyter 2007-12-01
Series:Journal of Integrative Bioinformatics
Online Access:https://doi.org/10.1515/jib-2007-79
_version_ 1818598056243757056
author Mottaz Anaïs
Yip Yum L.
Ruch Patrick
Veuthey Anne-Lise
author_facet Mottaz Anaïs
Yip Yum L.
Ruch Patrick
Veuthey Anne-Lise
author_sort Mottaz Anaïs
collection DOAJ
description In order to improve the accessibility of genomic and proteomic information to medical researchers, we have developed a procedure to link biological information on proteins involved in diseases to the MeSH and ICD-10 disease terminologies. For this purpose, we took advantage of the manually curated disease annotations in more than 2,000 human protein entries of the UniProt KnowledgeBase. We mapped disease names extracted from the entry comment lines or from the corresponding OMIM entry to the MeSH. The method was assessed on a benchmark set of 200 manually mapped disease comment lines. We obtained a recall of 54% for 91% precision. The same procedure was used to map the more than 3,000 diseases in Swiss-Prot to MeSH with comparable efficiency. Tested on ICD-10, the coverage of the mapped terms was lower, which could be explained by the coarse-grained structure of this terminology for hereditary disease description. The mapping is provided as supplementary material at http://research.isbsib.ch/unimed.
first_indexed 2024-12-16T11:57:38Z
format Article
id doaj.art-050d782a15f44ddcbf82cb583934b3a4
institution Directory Open Access Journal
issn 1613-4516
language English
last_indexed 2024-12-16T11:57:38Z
publishDate 2007-12-01
publisher De Gruyter
record_format Article
series Journal of Integrative Bioinformatics
spelling doaj.art-050d782a15f44ddcbf82cb583934b3a42022-12-21T22:32:31ZengDe GruyterJournal of Integrative Bioinformatics1613-45162007-12-014324325110.1515/jib-2007-79biecoll-jib-2007-79Mapping protein information to disease terminologiesMottaz Anaïs0Yip Yum L.1Ruch Patrick2Veuthey Anne-Lise3Swiss Institute of Bioinformatics SwitzerlandSwiss Institute of Bioinformatics, SwitzerlandDept. of Structural Biology and Bioinformatics, University of Geneva, SwitzerlandSwiss Institute of Bioinformatics, SwitzerlandIn order to improve the accessibility of genomic and proteomic information to medical researchers, we have developed a procedure to link biological information on proteins involved in diseases to the MeSH and ICD-10 disease terminologies. For this purpose, we took advantage of the manually curated disease annotations in more than 2,000 human protein entries of the UniProt KnowledgeBase. We mapped disease names extracted from the entry comment lines or from the corresponding OMIM entry to the MeSH. The method was assessed on a benchmark set of 200 manually mapped disease comment lines. We obtained a recall of 54% for 91% precision. The same procedure was used to map the more than 3,000 diseases in Swiss-Prot to MeSH with comparable efficiency. Tested on ICD-10, the coverage of the mapped terms was lower, which could be explained by the coarse-grained structure of this terminology for hereditary disease description. The mapping is provided as supplementary material at http://research.isbsib.ch/unimed.https://doi.org/10.1515/jib-2007-79
spellingShingle Mottaz Anaïs
Yip Yum L.
Ruch Patrick
Veuthey Anne-Lise
Mapping protein information to disease terminologies
Journal of Integrative Bioinformatics
title Mapping protein information to disease terminologies
title_full Mapping protein information to disease terminologies
title_fullStr Mapping protein information to disease terminologies
title_full_unstemmed Mapping protein information to disease terminologies
title_short Mapping protein information to disease terminologies
title_sort mapping protein information to disease terminologies
url https://doi.org/10.1515/jib-2007-79
work_keys_str_mv AT mottazanais mappingproteininformationtodiseaseterminologies
AT yipyuml mappingproteininformationtodiseaseterminologies
AT ruchpatrick mappingproteininformationtodiseaseterminologies
AT veutheyannelise mappingproteininformationtodiseaseterminologies