Representation and Interpretation of Genetic Analysis: A Strategy of Development for the Personal Genetics Card Information System
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/68407700:21730/20:00344981
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Representation and Interpretation of Genetic Analysis: A Strategy of Development for the Personal Genetics Card Information System
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Representation and Interpretation of Genetic Analysis: A Strategy of Development for the Personal Genetics Card Information System
Popis výsledku anglicky
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.
Klasifikace
Druh
D - Stať ve sborníku
CEP obor
—
OECD FORD obor
10201 - Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8)
Návaznosti výsledku
Projekt
<a href="/cs/project/FV30421" target="_blank" >FV30421: GENOMKIT - Progresivní technologie pro racionalizaci personalizované farmakogenomiky, nutrigenomiky a sportovní medicíny</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2020
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název statě ve sborníku
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
Počet stran výsledku
7
Strana od-do
129-135
Název nakladatele
IOS Press
Místo vydání
Amsterdam
Místo konání akce
Prague
Datum konání akce
14. 9. 2020
Typ akce podle státní příslušnosti
WRD - Celosvětová akce
Kód UT WoS článku
—