Methods of Gene Enrichment and Massively Parallel Sequencing Technologies

Thirty years after the invention of dideoxy sequencing (a.k.a. Sanger sequencing), the advent of massively parallel sequencing technologies became another biotechnical revolution that enables the acquisition of genetic information in gigabase scale within an acceptable period of time. As a consequence, causal mutations underlying clinically heterogeneous disorders are more efficiently detected, paving the way for deciphering the pathogenecities of complex diseases. With the huge potential impact in modern medicine and health care, progress has been rapid in further optimizing the technology in both the academic and industrial fields. Third-generation sequencing technologies, although still facing multiple challenges, have shed light on the direct analyses of DNA and RNA at single-molecule level. Currently, before whole genome sequencing becomes routine, an in-depth assessment of targeted genomic regions is more feasible and has been widely applied in both clinical applications and basic research. Various enrichment methods, either PCR-based or hybridization-based, have been developed and gradually improved during application. This chapter provides detailed information on various target gene enrichment methods as well as massively parallel sequencing platforms. Hopefully this could assist the project-based approach/platform selections tailored for individual needs.

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