DiMeX: A Text Mining System for Mutation- Disease Association Extraction

Author(s)Mahmood, A. S. M. Ashique
Author(s)Wu, Tsung-Jung
Author(s)Mazumder, Raja
Author(s)Vijay-Shanker, K.
Ordered AuthorA. S. M. Ashique Mahmood, Tsung-Jung Wu, Raja Mazumder, K. Vijay-Shanker
UD AuthorMahmood, A. S. M. Ashiqueen_US
UD AuthorVijay-Shanker, K.en_US
Date Accessioned2016-11-10T15:56:09Z
Date Available2016-11-10T15:56:09Z
Copyright DateCopyright © 2016 Mahmood et al.en_US
Publication Date2016-04-13
DescriptionPublisher's PDFen_US
AbstractThe number of published articles describing associations between mutations and diseases is increasing at a fast pace. There is a pressing need to gather such mutation-disease associations into public knowledge bases, but manual curation slows down the growth of such databases. We have addressed this problem by developing a text-mining system (DiMeX) to extract mutation to disease associations from publication abstracts. DiMeX consists of a series of natural language processing modules that preprocess input text and apply syntactic and semantic patterns to extract mutation-disease associations. DiMeX achieves high precision and recall with F-scores of 0.88, 0.91 and 0.89 when evaluated on three different datasets for mutation-disease associations. DiMeX includes a separate component that extracts mutation mentions in text and associates them with genes. This component has been also evaluated on different datasets and shown to achieve state-of-the-art performance. The results indicate that our system outperforms the existing mutation-disease association tools, addressing the low precision problems suffered by most approaches. DiMeX was applied on a large set of abstracts from Medline to extract mutation-disease associations, as well as other relevant information including patient/cohort size and population data. The results are stored in a database that can be queried and downloaded at http:// biotm.cis.udel.edu/dimex/.We conclude that this high-throughput text-mining approach has the potential to significantly assist researchers and curators to enrich mutation databases.en_US
DepartmentUniversity of Delaware. Department of Computer and Information Sciences.en_US
CitationMahmood ASMA, Wu T-J, Mazumder R, Vijay-Shanker K (2016) DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PLoS ONE 11(4): e0152725. doi:10.1371/journal. pone.0152725en_US
DOIdoi:10.1371/journal. pone.0152725en_US
ISSN1932-6203en_US
URLhttp://udspace.udel.edu/handle/19716/19832
Languageen_USen_US
PublisherPublic Library of Scienceen_US
dc.rightsCC BYen_US
dc.sourcePLOS Oneen_US
dc.source.urihttp://journals.plos.org/plosone/en_US
TitleDiMeX: A Text Mining System for Mutation- Disease Association Extractionen_US
TypeArticleen_US
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