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      MediSyn: uncertainty-aware visualization of multiple biomedical datasets to support drug treatment selection

      research-article
      1 , , 2 , 3 , 2 , 3 , 1
      BMC Bioinformatics
      BioMed Central
      Symposium on Biological Data Visualization (BioVis) 2017
      24 July 17
      Interactive visualization, Uncertainty visualization, Multiple datasets

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          Abstract

          Background

          Dispersed biomedical databases limit user exploration to generate structured knowledge. Linked Data unifies data structures and makes the dispersed data easy to search across resources, but it lacks supporting human cognition to achieve insights. In addition, potential errors in the data are difficult to detect in their free formats. Devising a visualization that synthesizes multiple sources in such a way that links between data sources are transparent, and uncertainties, such as data conflicts, are salient is challenging.

          Results

          To investigate the requirements and challenges of uncertainty-aware visualizations of linked data, we developed MediSyn, a system that synthesizes medical datasets to support drug treatment selection. It uses a matrix-based layout to visually link drugs, targets (e.g., mutations), and tumor types. Data uncertainties are salient in MediSyn; for example, (i) missing data are exposed in the matrix view of drug-target relations; (ii) inconsistencies between datasets are shown via overlaid layers; and (iii) data credibility is conveyed through links to data provenance.

          Conclusions

          Through the synthesis of two manually curated datasets, cancer treatment biomarkers and drug-target bioactivities, a use case shows how MediSyn effectively supports the discovery of drug-repurposing opportunities. A study with six domain experts indicated that MediSyn benefited the drug selection and data inconsistency discovery. Though linked publication sources supported user exploration for further information, the causes of inconsistencies were not easy to find. Additionally, MediSyn could embrace more patient data to increase its informativeness. We derive design implications from the findings.

          Electronic supplementary material

          The online version of this article (doi:10.1186/s12859-017-1785-7) contains supplementary material, which is available to authorized users.

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          Most cited references27

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          Bio2RDF: towards a mashup to build bioinformatics knowledge systems.

          Presently, there are numerous bioinformatics databases available on different websites. Although RDF was proposed as a standard format for the web, these databases are still available in various formats. With the increasing popularity of the semantic web technologies and the ever growing number of databases in bioinformatics, there is a pressing need to develop mashup systems to help the process of bioinformatics knowledge integration. Bio2RDF is such a system, built from rdfizer programs written in JSP, the Sesame open source triplestore technology and an OWL ontology. With Bio2RDF, documents from public bioinformatics databases such as Kegg, PDB, MGI, HGNC and several of NCBI's databases can now be made available in RDF format through a unique URL in the form of http://bio2rdf.org/namespace:id. The Bio2RDF project has successfully applied the semantic web technology to publicly available databases by creating a knowledge space of RDF documents linked together with normalized URIs and sharing a common ontology. Bio2RDF is based on a three-step approach to build mashups of bioinformatics data. The present article details this new approach and illustrates the building of a mashup used to explore the implication of four transcription factor genes in Parkinson's disease. The Bio2RDF repository can be queried at http://bio2rdf.org.
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            In silico prescription of anticancer drugs to cohorts of 28 tumor types reveals targeting opportunities.

            Large efforts dedicated to detect somatic alterations across tumor genomes/exomes are expected to produce significant improvements in precision cancer medicine. However, high inter-tumor heterogeneity is a major obstacle to developing and applying therapeutic targeted agents to treat most cancer patients. Here, we offer a comprehensive assessment of the scope of targeted therapeutic agents in a large pan-cancer cohort. We developed an in silico prescription strategy based on identification of the driver alterations in each tumor and their druggability options. Although relatively few tumors are tractable by approved agents following clinical guidelines (5.9%), up to 40.2% could benefit from different repurposing options, and up to 73.3% considering treatments currently under clinical investigation. We also identified 80 therapeutically targetable cancer genes.
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              • Article: not found

              Explaining the user experience of recommender systems

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                Author and article information

                Contributors
                chen.he@helsinki.fi
                luana.micallef@hiit.fi
                zia.rehman@helsinki.fi
                samuel.kaski@helsinki.fi
                tero.aittokallio@helsinki.fi
                giulio.jacucci@helsinki.fi
                Conference
                BMC Bioinformatics
                BMC Bioinformatics
                BMC Bioinformatics
                BioMed Central (London )
                1471-2105
                13 September 2017
                13 September 2017
                2017
                : 18
                Issue : Suppl 10 Issue sponsor : Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.
                : 393
                Affiliations
                [1 ]ISNI 0000 0004 0410 2071, GRID grid.7737.4, Helsinki Institute for Information Technology HIIT, Department of Computer Science, , University of Helsinki, ; Gustaf Hällströmin katu 2b, Helsinki, 00560 Finland
                [2 ]ISNI 0000000108389418, GRID grid.5373.2, Helsinki Institute for Information Technology HIIT, , Department of Computer Science, Aalto University, ; Konemiehentie 2, Espoo, 02150 Finland
                [3 ]ISNI 0000 0004 0410 2071, GRID grid.7737.4, Institute for Molecular Medicine Finland, , University of Helsinki, ; Helsinki, 00014 Finland
                Article
                1785
                10.1186/s12859-017-1785-7
                5606218
                28929971
                c8b68525-66ab-4045-bff1-ed2b82c82ff9
                © The Author(s) 2017

                Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                Symposium on Biological Data Visualization (BioVis) 2017
                Prague, Czech Republic
                24 July 17
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                © The Author(s) 2017

                Bioinformatics & Computational biology
                interactive visualization,uncertainty visualization,multiple datasets

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