作者: Ian S. Hagemann
DOI: 10.1016/B978-0-12-404748-8.00001-0
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摘要: Clinical genomic testing has been made possible by the development of “next-generation” sequencing (NGS) technologies that allow large quantities nucleic acid sequence to be obtained in a clinically meaningful time frame. This chapter reviews platforms are currently most common use, including Illumina, Ion Torrent, SOLiD, and Roche 454. Sanger is discussed as “first-generation” technology retains an important place clinical genomics for orthogonal validation NGS findings coverage areas not amenable NGS.