The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10295608" target="_blank" >RIV/00216208:11110/15:10295608 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10295608
Result on the web
<a href="http://dx.doi.org/10.1093/eurheartj/ehv122" target="_blank" >http://dx.doi.org/10.1093/eurheartj/ehv122</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/eurheartj/ehv122" target="_blank" >10.1093/eurheartj/ehv122</a>

Result language
angličtina
Original language name
The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
Original language description
Cardiomyopathies, arrhythmic syndromes, aortopathies, and other cardiovascular diseases with Mendelian inheritance are relatively frequent conditions for which genetic testing is recommended in various guidelines. The most widely recognized indication for genetic testing in patients with these conditions is to identify a causative mutation and subsequently provide pre-symptomatic or predictive testing of relatives who are at risk of developing the same disease at a later stage. This process of cascade screening of family members ensures adequate clinical surveillance of mutation carriers and allows non-carriers to be discharged from clinical follow-up. A number of studies have reported a greater cost-effectiveness combining molecular screening with clinical screening compared with isolated clinical investigations. Previously, genetic testing was based on conventional techniques like Sanger sequencing analysing genes one by one, but recent advances in DNA sequencing technologies have ma
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FA - Cardiovascular diseases including cardio-surgery
OECD FORD branch
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Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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