The Next Generation Sequencing and Applications in Clinical Research

Abstract

This chapter provides a survey about the next-generation sequencing technologies, as well as four selective applications in clinical researches. After reading Sect. 4.2, we hope the readers to have a general view of the current sequencing technologies in terms of main stream platforms, experimental protocols, data analysis working flow, international projects and databases, state-of-art techniques; by reading the last section, we hope that the readers have a specific view of the clinical applications of next generation sequencing to mutation detection, targeted sequencing, cell free circulating DNA sequencing, and single cell sequencing.