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dc.contributor.authorKordopati, Vasiliki
dc.contributor.authorSalhi, Adil
dc.contributor.authorRazali, Rozaimi
dc.contributor.authorRadovanovic, Aleksandar
dc.contributor.authorTifratene, Faroug
dc.contributor.authorUludag, Mahmut
dc.contributor.authorLi, Yu
dc.contributor.authorBokhari, Ameerah
dc.contributor.authorAlSaieedi, Ahdab
dc.contributor.authorBin Res, Arwa A.
dc.contributor.authorVan Neste, Christophe Marc
dc.contributor.authorEssack, Magbubah
dc.contributor.authorBajic, Vladimir B.
dc.date.accessioned2018-09-12T21:07:03Z
dc.date.available2018-09-12T21:07:03Z
dc.date.issued2018-09-06
dc.identifier.citationKordopati V, Salhi A, Razali R, Radovanovic A, Tifratene F, et al. (2018) DES-Mutation: System for Exploring Links of Mutations and Diseases. Scientific Reports 8. Available: http://dx.doi.org/10.1038/s41598-018-31439-w.
dc.identifier.issn2045-2322
dc.identifier.doi10.1038/s41598-018-31439-w
dc.identifier.urihttp://hdl.handle.net/10754/628688
dc.description.abstractDuring cellular division DNA replicates and this process is the basis for passing genetic information to the next generation. However, the DNA copy process sometimes produces a copy that is not perfect, that is, one with mutations. The collection of all such mutations in the DNA copy of an organism makes it unique and determines the organism's phenotype. However, mutations are often the cause of diseases. Thus, it is useful to have the capability to explore links between mutations and disease. We approached this problem by analyzing a vast amount of published information linking mutations to disease states. Based on such information, we developed the DES-Mutation knowledgebase which allows for exploration of not only mutation-disease links, but also links between mutations and concepts from 27 topic-specific dictionaries such as human genes/proteins, toxins, pathogens, etc. This allows for a more detailed insight into mutation-disease links and context. On a sample of 600 mutation-disease associations predicted and curated, our system achieves precision of 72.83%. To demonstrate the utility of DES-Mutation, we provide case studies related to known or potentially novel information involving disease mutations. To our knowledge, this is the first mutation-disease knowledgebase dedicated to the exploration of this topic through text-mining and data-mining of different mutation types and their associations with terms from multiple thematic dictionaries.
dc.description.sponsorshipThe computational analysis for this study was performed on Dragon and Snapdragon compute clusters of the Computational Bioscience Research Center (CBRC) at King Abdullah University ’of Science and Technology (KAUST). This work has been supported by the King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research (OSR) under Awards No FCC/1/1976-02, and KAUST Base Research Fund (BAS/1/1606-01-01) to VBB.
dc.publisherSpringer Nature
dc.relation.urlhttps://www.nature.com/articles/s41598-018-31439-w
dc.rightsThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleDES-Mutation: System for Exploring Links of Mutations and Diseases
dc.typeArticle
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
dc.contributor.departmentComputer Science Program
dc.contributor.departmentBioscience Program
dc.contributor.departmentApplied Mathematics and Computational Science Program
dc.identifier.journalScientific Reports
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionKing Abdulaziz University (KAU), Faculty of Applied Medical Sciences (FAMS), Department of Medical Laboratory Technology (MLT), Jeddah, 21589-80324, Saudi Arabia
dc.contributor.institutionGhent University, Center for Medical Genetics Ghent (CMGG), B-9000, Ghent, Belgium
kaust.personKordopati, Vasiliki
kaust.personSalhi, Adil
kaust.personRazali, Rozaimi
kaust.personRadovanovic, Aleksandar
kaust.personTifratene, Faroug
kaust.personUludag, Mahmut
kaust.personLi, Yu
kaust.personBokhari, Ameerah
kaust.personAlSaieedi, Ahdab
kaust.personBin Res, Arwa A.
kaust.personVan Neste, Christophe Marc
kaust.personEssack, Magbubah
kaust.personBajic, Vladimir B.
kaust.grant.numberFCC/1/1976-02
kaust.grant.numberBAS/1/1606-01-01
refterms.dateFOA2018-09-13T12:53:12Z
dc.date.published-online2018-09-06
dc.date.published-print2018-12


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This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Except where otherwise noted, this item's license is described as This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.