"New generation sequencing and its contribution to cancer diagnosis"

Abstract

This paper addresses the issue of new generation sequencing especially in cancer. It consists of eight chapters.

The first chapter focuses on Sanger DNA sequencing. Specifically, it presents the method, the dye-terminator sequencing, the automation and sample preparation, the challenges, the Sanger sequencing with microfluids and the applications of microfluids in sequencing technologies. It describes the pattern, sequencing chemistry, platforms, and comparisons with other sequencing techniques. The second chapter focuses on NGS, a next-generation sequencing technology. The third chapter presents inherited cancer syndromes and the fourth chapter analyzes cancer somatic mutation concluding with remarks about Gene-Panels for the analysis of somatic mutations and the technology of liquid biopsy. The fifth chapter presents pharmacogenetics and the sixth focuses on other applications and future directions. Chapter seven presents the limitations and complications of NGS in genetic diagnostics and ethics. Finally, the eighth chapter concludes with observations.

GRAVOU Vasiliki