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The linked clinical data project: applying semantic web technologies for clinical and translational research using electronic medical records

Published: 07 December 2011 Publication History

Abstract

Systematic study of clinical phenotypes is important to better understand the genetic basis of human diseases and more effective gene-based disease management. The Linked Clinical Data (LCD) project at Mayo Clinic aims to develop a semantics-driven framework for high-throughput phenotype extraction, representation, integration, and querying from electronic medical records using emerging Semantic Web technologies, such as Linked Open Data. This poster abstract provides a brief background and overview of the recently initiated LCD project.

References

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McCarty, C., et al., The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Medical Genomics, 2011. 4(1): p. 13.
[2]
Sherry, S. T., M. Ward, and K. Sirotkin, dbSNP,ÄîDatabase for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation. Genome Research, 1999. 9(8): p. 677--679.
[3]
Hamosh, A., et al., Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research, 2005. 33(suppl 1): p. D514--D517.
[4]
Belleau, F., et al., Bio2RDF: Towards a mashup to build bioinformatics knowledge systems. Journal of Biomedical Informatics, 2008. 41(5): p. 706--716.
[5]
Bielinski, S. J., et al., Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels. Mayo Clinic Proceedings, 2011. 86(7): p. 606--614.

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  • (2014)An umbrella protocol for standardized data collection (SDC) in rectal cancer: A prospective uniform naming and procedure convention to support personalized medicineRadiotherapy and Oncology10.1016/j.radonc.2014.04.008112:1(59-62)Online publication date: Jul-2014

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  1. The linked clinical data project: applying semantic web technologies for clinical and translational research using electronic medical records

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      cover image ACM Other conferences
      SWAT4LS '11: Proceedings of the 4th International Workshop on Semantic Web Applications and Tools for the Life Sciences
      December 2011
      139 pages
      ISBN:9781450310765
      DOI:10.1145/2166896
      Permission to make digital or hard copies of part or all of this work for personal or classroom use is granted without fee provided that copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on the first page. Copyrights for third-party components of this work must be honored. For all other uses, contact the Owner/Author.

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      • Ontotext
      • Corporate Semantic Web: Corporate Semantic Web
      • BBRC: Biotechnology and Biological Sciences Research Council
      • NCBO: National Center for BioMedical Ontology
      • BioMed Central: BioMed Central

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      Association for Computing Machinery

      New York, NY, United States

      Publication History

      Published: 07 December 2011

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      Author Tags

      1. diabetes mellitus
      2. genome-wide association studies
      3. genotype-phenotype associations
      4. linked open data

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      SWAT4LS '11
      Sponsor:
      • Corporate Semantic Web
      • BBRC
      • NCBO
      • BioMed Central

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      • (2014)An umbrella protocol for standardized data collection (SDC) in rectal cancer: A prospective uniform naming and procedure convention to support personalized medicineRadiotherapy and Oncology10.1016/j.radonc.2014.04.008112:1(59-62)Online publication date: Jul-2014

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