Overview of Technical Aspects and Chemistries of Next-Generation Sequencing

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.

参考文章(26)
Ximeng Liu, Shuko Harada, DNA Isolation from Mammalian Samples Current protocols in molecular biology. ,vol. 102, ,(2013) , 10.1002/0471142727.MB0214S102
S. Tabor, C. C. Richardson, Effect of manganese ions on the incorporation of dideoxynucleotides by bacteriophage T7 DNA polymerase and Escherichia coli DNA polymerase I. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 86, pp. 4076- 4080 ,(1989) , 10.1073/PNAS.86.11.4076
H. Klenow, I. Henningsen, Selective elimination of the exonuclease activity of the deoxyribonucleic acid polymerase from Escherichia coli B by limited proteolysis. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 65, pp. 168- 175 ,(1970) , 10.1073/PNAS.65.1.168
Theru A. Sivakumaran, Ammar Husami, Diane Kissell, Wenying Zhang, Mehdi Keddache, Angela P. Black, Brad T. Tinkle, John H. Greinwald, Kejian Zhang, Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngology-Head and Neck Surgery. ,vol. 148, pp. 1007- 1016 ,(2013) , 10.1177/0194599813482294
Jay A. Shendure, Gregory J. Porreca, George M. Church, Andrew F. Gardner, Cynthia L. Hendrickson, Jan Kieleczawa, Barton E. Slatko, Overview of DNA sequencing strategies. Current protocols in molecular biology. ,vol. 96, ,(2008) , 10.1002/0471142727.MB0701S96
A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, M. A. DePristo, The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data Genome Research. ,vol. 20, pp. 1297- 1303 ,(2010) , 10.1101/GR.107524.110
Nicholas J Loman, Raju V Misra, Timothy J Dallman, Chrystala Constantinidou, Saheer E Gharbia, John Wain, Mark J Pallen, Performance comparison of benchtop high-throughput sequencing platforms Nature Biotechnology. ,vol. 30, pp. 434- 439 ,(2012) , 10.1038/NBT.2198
Lin Liu, Yinhu Li, Siliang Li, Ni Hu, Yimin He, Ray Pong, Danni Lin, Lihua Lu, Maggie Law, Comparison of Next-Generation Sequencing Systems BioMed Research International. ,vol. 2012, pp. 251364- 251364 ,(2012) , 10.1155/2012/251364