Registries of domain-relevant semantic reference models help bootstrap interoperability in domains with fragmented data resources

Marco Roos, Mark D. Wilkinson, Rajaram Kaliyaperumal, Mark Thompson, Claudio Carta, Ronald Cornet, David Van Enckevort, Luiz Bonino

Research output: Chapter in Book/Report/Conference proceedingConference contributionAcademicpeer-review

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Abstract

The specialist field of rare diseases must connect its vast array of globally distributed disease and patient registries to maximise their value. Unfortunately, many registries are "boutique", with few or no staff with formal informatics training. At a series of Bring Your Own Data workshops, we helped registry owners transform their data into formally structured triple stores following the Linked Data principles and demonstrated the potential of data linkage. We documented several useful approaches that we believe could be followed independently by other registry owners worldwide, including: that the transformation to Linked Data could be considered as passing through layers of increasing semantic complexity; that only a subset of ontologies are relevant at each layer; and that certain data transformation processes could be modelled as an "archetype", and presented to registry staff to fill-in with their data. We propose that formally capturing these ontological layers and archetypes, and registering them as a reference and teaching resource will facilitate the wider community of non-expert data owners self-direct their own data transformations.

Original languageEnglish
Title of host publicationSWAT4LS 2016
Publication statusPublished - 2016
Externally publishedYes
Event9th International Conference Semantic Web Applications and Tools for Life Sciences, SWAT4LS 2016 - Amsterdam, Netherlands
Duration: 5 Dec 20168 Dec 2016
Conference number: 9

Publication series

NameCEUR workshop proceedings
PublisherRheinisch Westfälische Technische Hochschule
Volume1795
ISSN (Print)1613-0073

Conference

Conference9th International Conference Semantic Web Applications and Tools for Life Sciences, SWAT4LS 2016
Abbreviated titleSWAT4LS 2016
Country/TerritoryNetherlands
CityAmsterdam
Period5/12/168/12/16

Keywords

  • Archetype
  • Linked data
  • Ontologies
  • Rare disease
  • Semantic reference model

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