Literature DB >> 22449719

Translating standards into practice - one Semantic Web API for Gene Expression.

Helena F Deus1, Eric Prud'hommeaux, Michael Miller, Jun Zhao, James Malone, Tomasz Adamusiak, Jim McCusker, Sudeshna Das, Philippe Rocca Serra, Ronan Fox, M Scott Marshall.   

Abstract

Sharing and describing experimental results unambiguously with sufficient detail to enable replication of results is a fundamental tenet of scientific research. In today's cluttered world of "-omics" sciences, data standards and standardized use of terminologies and ontologies for biomedical informatics play an important role in reporting high-throughput experiment results in formats that can be interpreted by both researchers and analytical tools. Increasing adoption of Semantic Web and Linked Data technologies for the integration of heterogeneous and distributed health care and life sciences (HCLSs) datasets has made the reuse of standards even more pressing; dynamic semantic query federation can be used for integrative bioinformatics when ontologies and identifiers are reused across data instances. We present here a methodology to integrate the results and experimental context of three different representations of microarray-based transcriptomic experiments: the Gene Expression Atlas, the W3C BioRDF task force approach to reporting Provenance of Microarray Experiments, and the HSCI blood genomics project. Our approach does not attempt to improve the expressivity of existing standards for genomics but, instead, to enable integration of existing datasets published from microarray-based transcriptomic experiments. SPARQL Construct is used to create a posteriori mappings of concepts and properties and linking rules that match entities based on query constraints. We discuss how our integrative approach can encourage reuse of the Experimental Factor Ontology (EFO) and the Ontology for Biomedical Investigations (OBIs) for the reporting of experimental context and results of gene expression studies.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 22449719     DOI: 10.1016/j.jbi.2012.03.002

Source DB:  PubMed          Journal:  J Biomed Inform        ISSN: 1532-0464            Impact factor:   6.317


  4 in total

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2.  linkedISA: semantic representation of ISA-Tab experimental metadata.

Authors:  Alejandra González-Beltrán; Eamonn Maguire; Susanna-Assunta Sansone; Philippe Rocca-Serra
Journal:  BMC Bioinformatics       Date:  2014-11-27       Impact factor: 3.169

Review 3.  Knowledge Discovery in Biological Databases for Revealing Candidate Genes Linked to Complex Phenotypes.

Authors:  Keywan Hassani-Pak; Christopher Rawlings
Journal:  J Integr Bioinform       Date:  2017-06-13

4.  A self-updating road map of The Cancer Genome Atlas.

Authors:  David E Robbins; Alexander Grüneberg; Helena F Deus; Murat M Tanik; Jonas S Almeida
Journal:  Bioinformatics       Date:  2013-04-17       Impact factor: 6.937

  4 in total

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