All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

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

  • Czech description

Classification

  • Type

    D - Article in proceedings

  • CEP classification

  • 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