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Next-generation sequencing entering the clinical arena

Over the last decade the genetic etiology of many heritable diseases could be resolved. For heart muscle diseases, so called cardiomyopathies, mutations in more than 40 different genes have been identified. Due to this large genetic heterogeneity and missing of adequate gene-diagnostic tools, most p...

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Hauptverfasser: Haas, Jan (VerfasserIn) , Katus, Hugo (VerfasserIn) , Meder, Benjamin (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2011
In: Molecular and cellular probes
Year: 2011, Jahrgang: 25, Heft: 5, Pages: 206-211
ISSN:1096-1194
DOI:10.1016/j.mcp.2011.08.005
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.mcp.2011.08.005
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S089085081100048X
Volltext
Verfasserangaben:Jan Haas, Hugo A. Katus, Benjamin Meder

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520 |a Over the last decade the genetic etiology of many heritable diseases could be resolved. For heart muscle diseases, so called cardiomyopathies, mutations in more than 40 different genes have been identified. Due to this large genetic heterogeneity and missing of adequate gene-diagnostic tools, most patients are not genetically characterized, which would be important for individualized patient care. Currently, next-generation sequencing technologies are revolutionizing genetic and epigenetic research, since they are capable to produce billions of bases of sequence information in a single experiment. Accordingly, this powerful technology can now also open avenues for genetic diagnostics. The scope of this article is to illustrate technical approaches, clinical applications, and yet unsolved problems of next-generation sequencing entering the clinical arena. 
650 4 |a Diagnostic genetic testing 
650 4 |a Dilated cardiomyopathy (DCM) 
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650 4 |a Hypertrophic cardiomyopathy (HCM) 
650 4 |a Next-generation sequencing 
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