Key Principles and Clinical Applications of “Next-Generation” DNA Sequencing

作者: Jason M. Rizzo , Michael J. Buck

DOI: 10.1158/1940-6207.CAPR-11-0432

关键词:

摘要: Demand for fast, inexpensive, and accurate DNA sequencing data has led to the birth dominance of a new generation technologies. So-called "next-generation" technologies enable rapid by massive amounts in parallel using diverse methodologies which overcome limitations Sanger methods used sequence first human genome. Despite opening frontiers genomics research, fundamental shift away from that next-generation created also left many unaware capabilities applications these technologies, especially those clinical realm. Moreover, brisk evolution flooded market with commercially available platforms, whose unique chemistries stand as another obstacle restricting potential sequencing. This review serves provide primer on researchers physician scientists. We an overview raise awareness among about power novel genomic tools. In addition, we discuss key principles comparison between existing near-term outline advantages disadvantages different platforms help choose appropriate platform their research interests.

参考文章(99)
Christopher Hart, Doron Lipson, Fatih Ozsolak, Tal Raz, Kathleen Steinmann, John Thompson, Patrice M. Milos, Single-molecule sequencing: sequence methods to enable accurate quantitation. Methods in Enzymology. ,vol. 472, pp. 407- 430 ,(2010) , 10.1016/S0076-6879(10)72002-4
Niranjan Nagarajan, Mihai Pop, Sequencing and Genome Assembly Using Next-Generation Technologies Methods in Molecular Biology. ,vol. 673, pp. 1- 17 ,(2010) , 10.1007/978-1-60761-842-3_1
Jennifer Demski, This Time It's Personal. T.H.E. Journal. ,vol. 39, pp. 32- 36 ,(2012)
Elaine R Mardis, Anticipating the $1,000 genome Genome Biology. ,vol. 7, pp. 112- 112 ,(2006) , 10.1186/GB-2006-7-7-112
Zhenhai Zhang, B. Franklin Pugh, High-Resolution Genome-wide Mapping of the Primary Structure of Chromatin Cell. ,vol. 144, pp. 175- 186 ,(2011) , 10.1016/J.CELL.2011.01.003
Thomas J Albert, Michael N Molla, Donna M Muzny, Lynne Nazareth, David Wheeler, Xingzhi Song, Todd A Richmond, Chris M Middle, Matthew J Rodesch, Charles J Packard, George M Weinstock, Richard A Gibbs, Direct selection of human genomic loci by microarray hybridization. Nature Methods. ,vol. 4, pp. 903- 905 ,(2007) , 10.1038/NMETH1111
Jeffrey A. Martin, Zhong Wang, Next-generation transcriptome assembly Nature Reviews Genetics. ,vol. 12, pp. 671- 682 ,(2011) , 10.1038/NRG3068
Jeffery A Schloss, How to get genomes at one ten-thousandth the cost. Nature Biotechnology. ,vol. 26, pp. 1113- 1115 ,(2008) , 10.1038/NBT1008-1113
Bas van Steensel, Job Dekker, Genomics tools for unraveling chromosome architecture Nature Biotechnology. ,vol. 28, pp. 1089- 1095 ,(2010) , 10.1038/NBT.1680