Vogl, Ina; Benet-Pagès, Anna; Eck, Sebastian H.; Kuhn, Marius; Vosberg, Sebastian; Greif, Philipp A.; Metzeler, Klaus H.; Biskup, Saskia; Müller-Reible, Clemens; Klein, Hanns-Georg (2013): Applications and data analysis of next-generation sequencing. In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Vol. 37, Nr. 6: S. 305-315




Over the past 6 years, next-generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. Although the high expectations regarding the discovery of new diagnostic targets and an overall reduction of cost have been achieved, technological challenges in instrument handling, robustness of the chemistry, and data analysis need to be overcome. Each workflow and sequencing platform have their particular problems and caveats, which need to be addressed. Regarding NGS, there is a variety of different enrichment methods, sequencing devices, or technologies as well as a multitude of analyzing software products available. In this manuscript, the authors focus on challenges in data analysis when employing different target enrichment methods and the best applications for each of them