Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

OpenEHR modeling for genomics in clinical practice

View ORCID ProfileCecilia Mascia, View ORCID ProfilePaolo Uva, View ORCID ProfileSimone Leo, View ORCID ProfileGianluigi Zanetti
doi: https://doi.org/10.1101/194720
Cecilia Mascia
1CRS4: Center for Advanced Studies, Research and Development in Sardinia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Cecilia Mascia
Paolo Uva
1CRS4: Center for Advanced Studies, Research and Development in Sardinia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Paolo Uva
Simone Leo
1CRS4: Center for Advanced Studies, Research and Development in Sardinia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Simone Leo
Gianluigi Zanetti
1CRS4: Center for Advanced Studies, Research and Development in Sardinia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Gianluigi Zanetti
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Preview PDF
Loading

Abstract

The increasing usage of high throughput sequencing in personalized medicine brings new challenges to the realm of healthcare informatics. Patient records need to accommodate data of unprecedented size and complexity as well as keep track of their production process. In this work we present a solution for integrating genomic data into electronic health records via openEHR archetypes. We introduce new genomics-specific archetypes based on the popular variant call format and show their applicability to a practical use case. Finally, we discuss their structure in comparison with the HL7® FHIR® standard.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
Back to top
PreviousNext
Posted September 28, 2017.
Download PDF
Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
OpenEHR modeling for genomics in clinical practice
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
OpenEHR modeling for genomics in clinical practice
Cecilia Mascia, Paolo Uva, Simone Leo, Gianluigi Zanetti
bioRxiv 194720; doi: https://doi.org/10.1101/194720
Reddit logo Twitter logo Facebook logo LinkedIn logo Mendeley logo
Citation Tools
OpenEHR modeling for genomics in clinical practice
Cecilia Mascia, Paolo Uva, Simone Leo, Gianluigi Zanetti
bioRxiv 194720; doi: https://doi.org/10.1101/194720

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Bioinformatics
Subject Areas
All Articles
  • Animal Behavior and Cognition (4370)
  • Biochemistry (9559)
  • Bioengineering (7075)
  • Bioinformatics (24789)
  • Biophysics (12577)
  • Cancer Biology (9927)
  • Cell Biology (14304)
  • Clinical Trials (138)
  • Developmental Biology (7934)
  • Ecology (12084)
  • Epidemiology (2067)
  • Evolutionary Biology (15963)
  • Genetics (10906)
  • Genomics (14714)
  • Immunology (9849)
  • Microbiology (23595)
  • Molecular Biology (9461)
  • Neuroscience (50730)
  • Paleontology (369)
  • Pathology (1537)
  • Pharmacology and Toxicology (2675)
  • Physiology (4001)
  • Plant Biology (8646)
  • Scientific Communication and Education (1505)
  • Synthetic Biology (2388)
  • Systems Biology (6417)
  • Zoology (1345)