Representation and Interpretation of Genetic Analysis: A Strategy of Development for the Personal Genetics Card Information System
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68407700%3A21460%2F20%3A00344981" target="_blank" >RIV/68407700:21460/20:00344981 - isvavai.cz</a>
Alternative codes found
RIV/68407700:21730/20:00344981
Result on the web
<a href="https://doi.org/10.3233/SHTI200627" target="_blank" >https://doi.org/10.3233/SHTI200627</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3233/SHTI200627" target="_blank" >10.3233/SHTI200627</a>
Alternative languages
Result language
angličtina
Original language name
Representation and Interpretation of Genetic Analysis: A Strategy of Development for the Personal Genetics Card Information System
Original language description
In this paper, we describe a strategy for the development of a genetic analysis comprehensive representation. The primary intention is to ensure the available utilization of genetic analysis results in clinical practice. The system is called Personnel Genetic Card (PGC), and it is developed in cooperation of CIIRC CTU in Prague and the Mediware company. Nowadays, genetic information is more and more part of medicine and life quality services (e.g. nutritional consulting). Therefore, there is necessary to bind genetic information with the clinical phenotype, such as drug metabolism or intolerance to various substances. We proposed a structured form of the record, where we utilize the LOINC® standard to identify genetic test parameters, and several terminology databases for representing specific genetic information (e.g. HGNC, NCBI RefSeq, NCBI dbNSP, HGVS). Further, there are also several knowledge databases (PharmGKB, SNPedia, ClinVar) that collect interpretation for genetic analysis results. In the results of this paper, we describe our idea in the structure and process perspective. The structural perspective includes the representation of the analysis record and its binding with the interpretations. The process perspective describes roles and activities within the PGC system use.
Czech name
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Czech description
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Classification
Type
D - Article in proceedings
CEP classification
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OECD FORD branch
10201 - Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8)
Result continuities
Project
<a href="/en/project/FV30421" target="_blank" >FV30421: GenomKit - Progressive technology for the rationalization of personalized pharmacogenomics, nutrigenomics and sports medicine</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Article name in the collection
pHealth 2020 Proceedings of the 17th International Conference on Wearable Micro and Nano Technologies for Personalized Health
ISBN
978-1-64368-112-2
ISSN
0926-9630
e-ISSN
1879-8365
Number of pages
7
Pages from-to
129-135
Publisher name
IOS Press
Place of publication
Amsterdam
Event location
Prague
Event date
Sep 14, 2020
Type of event by nationality
WRD - Celosvětová akce
UT code for WoS article
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