Publication details

Základní bioinformatické pojmy a postupy využívané pro analýzu DNA pomocí sekvenování nové generace

Title in English Next generation sequencing: basic bioinformatic terms and analytic protocols for DNA analysis


Year of publication 2018
Type Article in Periodical
Magazine / Source Transfuze a hematologie dnes
MU Faculty or unit

Central European Institute of Technology

Keywords next generation sequencing; bioinformatics; pipeline
Description Next generation sequencing (NGS) has become very popular both in research and clinical practice, in particular because it allows detailed and rapid insight into the patient's genome. Within the context of cancer research, NGS methods allow precise detection of germline and especially somatic mutations, which can help to diagnose a disease quickly and precisely and thus enable treatment administration based on individual patient needs. The development of novel computing methods and their application for accurate processing of NGS data is the objective of the scientific field of bioinformatics. Bioinformatic analysis is a complex process and its precise set-up is absolutely crucial for obtaining relevant results. Thus, it is necessary for bioinformaticians to understand the biological principles of the given analysis, such as the development of somatic mutations during disease course. From the perspective of a bio-analyst or physician, it is essential to understand the challenges and limits of NGS technology; basic knowledge of bioinformatics and its terminology allows for effective communication with bioinformaticians. In this review, the authors attempt to describe bioinformatic analysis with emphasis on explaining the basic concepts used in the NGS data analysis.
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