Next-generation sequencing entering the clinical arena

• Verfasst von: Haas, Jan [VerfasserIn]
• Verfasst von: Katus, Hugo [VerfasserIn]
• Verfasst von: Meder, Benjamin [VerfasserIn]
• Titel: Next-generation sequencing entering the clinical arena
• Verf.angabe: Jan Haas, Hugo A. Katus, Benjamin Meder
• Jahr: 2011
• Umfang: 6 S.
• Fussnoten: Gesehen am 25.07.2022
• Titel Quelle: Enthalten in: Molecular and cellular probes
• Ort Quelle: London : Academic Press, 1987
• Jahr Quelle: 2011
• Band/Heft Quelle: 25(2011), 5 vom: Okt./Dez., Seite 206-211
• ISSN Quelle: 1096-1194
• DOI: doi:10.1016/j.mcp.2011.08.005
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Diagnostic genetic testing
• Sach-SW: Dilated cardiomyopathy (DCM)
• Sach-SW: Genetic heart disease
• Sach-SW: Hypertrophic cardiomyopathy (HCM)
• Sach-SW: Next-generation sequencing
• K10plus-PPN: 1811462650

Abstract

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.