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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Semantic Web repositories for genomics data using the eXframe platform.

Emily Merrill1, Stéphane Corlosquet1, Paolo Ciccarese2

  • 1Massachusetts General Hospital, Partners Research Building, 65 Landsdowne St, Cambridge, MA, 02139, USA.

Journal of Biomedical Semantics
|August 6, 2014
PubMed
Summary
This summary is machine-generated.

The eXframe platform now publishes Semantic Web data for genomics experiments, enabling easier integration and reuse of research findings. This facilitates interoperability with the broader biomedical knowledge base.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Semantic Web technologies

Background:

  • Genomics data and databases have grown significantly due to affordable assay technologies.
  • Sample annotation is increasingly common but rarely available as Linked Data.
  • Lack of machine-readable, standardized formats hinders large-scale data reuse and integration.

Purpose of the Study:

  • To develop a reusable framework for creating online genomics experiment repositories.
  • To enable the publication of Semantic Web data from genomics experiments.
  • To address challenges in data integration and reuse within the genomics domain.

Main Methods:

  • Developed the second generation of the eXframe platform.
  • Created an experiment model covering provenance, citations, assays, biomaterials, and data.
  • Mapped model elements to established biomedical ontologies and produced Resource Description Framework (RDF) data.
  • Indexed RDF data in an RDF store with a SPARQL endpoint.

Main Results:

  • The eXframe platform now publishes Semantic Web data.
  • An experiment model was created and mapped to biomedical ontologies.
  • RDF data is automatically generated and indexed for SPARQL queries.

Conclusions:

  • Open-source eXframe software allows institutions to create Semantic Web repositories.
  • Enables integration of genomics data with heterogeneous resources.
  • Facilitates interoperability with the Semantic Web of biomedical knowledge.