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Principles of the next gen sequencing and its application for studies of human malignant diseases
Chmelařová, Žaneta ; Kleiblová, Petra (advisor) ; Koudelková, Lenka (referee)
Modern technologies, including the next-gen sequencing (NGS), increase the speed for genetic data acquisition in analyses of the genetic susceptibility to various human pathologies. This, for example, entirely changes the field of tumor biology research and treatment because malignant tumor could be also considered as a genetic disease. This work aims to describe development of the DNA sequencing techniques with a focus on NGS. We summarize the basic scientific achievements stimulating the NGS development and its chemical, physical, and biological principles. Further, we overview the main steps in sequencing data acquisition and analysis, and principles used by the software tools that are required for the prediction of functional importance in identified genetic variants. The importance of NGS for current oncogenetics is illustrated using selected examples, including characterization of somatic genetic changes in sporadic tumors and identification of germinal pathogenic variants in case of hereditary cancer syndromes, that demonstrate the rapid implementation of NGS technologies into the clinical practice. Key words: DNA, PCR, next-gen sequencing, 3rd generation sequencing, gene mapping, gene annotation, hereditary tumors, cancer
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