Next generation sequencing technology: Advances and applications

被引：429

作者：

Buermans, H. P. J. ^{[1
]}

den Dunnen, J. T. ^{[1
]}

机构：

[1] Leiden Univ, Leiden Genome Technol Ctr, Med Ctr, NL-2300 RC Leiden, Netherlands

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2014年 / 1842卷 / 10期

关键词：

Next generation sequencing; Sequence by synthesis; Nanopore; Single molecule sequencing; Basic technology; Applications; PHI-29; DNA-POLYMERASE; SINGLE-MOLECULE; GENOME; AMPLIFICATION; MODE; RNA; IDENTIFICATION; METHYLATION; RESOLUTION; UNCOVERS;

D O I：

10.1016/j.bbadis.2014.06.015

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Impressive progress has been made in the field of Next Generation Sequencing (NGS). Through advancements in the fields of molecular biology and technical engineering, parallelization of the sequencing reaction has profoundly increased the total number of produced sequence reads per run. Current sequencing platforms allow for a previously unprecedented view into complex mixtures of RNA and DNA samples. NGS is currently evolving into a molecular microscope finding its way into virtually every fields of biomedical research. In this chapter we review the technical background of the different commercially available NGS platforms with respect to template generation and the sequencing reaction and take a small step towards what the upcoming NGS technologies will bring. We close with an overview of different implementations of NGS into biomedical research. This article is part of a Special Issue entitled: From Genome to Function. (C) 2014 Elsevier B.V. All rights reserved.

引用

页码：1932 / 1941

页数：10

共 66 条

[1] An atlas of active enhancers across human cell types and tissues [J].

Andersson, Robin ;

Gebhard, Claudia ;

Miguel-Escalada, Irene ;

Hoof, Ilka ;

Bornholdt, Jette ;

Boyd, Mette ;

Chen, Yun ;

Zhao, Xiaobei ;

Schmidl, Christian ;

Suzuki, Takahiro ;

Ntini, Evgenia ;

Arner, Erik ;

Valen, Eivind ;

Li, Kang ;

Schwarzfischer, Lucia ;

Glatz, Dagmar ;

Raithel, Johanna ;

Lilje, Berit ;

Rapin, Nicolas ;

Bagger, Frederik Otzen ;

Jorgensen, Mette ;

Andersen, Peter Refsing ;

Bertin, Nicolas ;

Rackham, Owen ;

Burroughs, A. Maxwell ;

Baillie, J. Kenneth ;

Ishizu, Yuri ;

Shimizu, Yuri ;

Furuhata, Erina ;

Maeda, Shiori ;

Negishi, Yutaka ;

Mungall, Christopher J. ;

Meehan, Terrence F. ;

Lassmann, Timo ;

Itoh, Masayoshi ;

Kawaji, Hideya ;

Kondo, Naoto ;

Kawai, Jun ;

Lennartsson, Andreas ;

Daub, Carsten O. ;

Heutink, Peter ;

Hume, David A. ;

Jensen, Torben Heick ;

Suzuki, Harukazu ;

Hayashizaki, Yoshihide ;

Mueller, Ferenc ;

Forrest, Alistair R. R. ;

Carninci, Piero ;

Rehli, Michael ;

Sandelin, Albin .

NATURE, 2014, 507 (7493) :455-+

[2] Enterotypes of the human gut microbiome [J].

Arumugam, Manimozhiyan ;

Raes, Jeroen ;

Pelletier, Eric ;

Le Paslier, Denis ;

Yamada, Takuji ;

Mende, Daniel R. ;

Fernandes, Gabriel R. ;

Tap, Julien ;

Bruls, Thomas ;

Batto, Jean-Michel ;

Bertalan, Marcelo ;

Borruel, Natalia ;

Casellas, Francesc ;

Fernandez, Leyden ;

Gautier, Laurent ;

Hansen, Torben ;

Hattori, Masahira ;

Hayashi, Tetsuya ;

Kleerebezem, Michiel ;

Kurokawa, Ken ;

Leclerc, Marion ;

Levenez, Florence ;

Manichanh, Chaysavanh ;

Nielsen, H. Bjorn ;

Nielsen, Trine ;

Pons, Nicolas ;

Poulain, Julie ;

Qin, Junjie ;

Sicheritz-Ponten, Thomas ;

Tims, Sebastian ;

Torrents, David ;

Ugarte, Edgardo ;

Zoetendal, Erwin G. ;

Wang, Jun ;

Guarner, Francisco ;

Pedersen, Oluf ;

de Vos, Willem M. ;

Brunak, Soren ;

Dore, Joel ;

Weissenbach, Jean ;

Ehrlich, S. Dusko ;

Bork, Peer .

NATURE, 2011, 473 (7346) :174-180

[3] Recognizing a single base in an individual DNA strand:: A step toward DNA sequencing in nanopores [J].

Ashkenasy, N ;

Sánchez-Quesada, J ;

Bayley, H ;

Ghadiri, MR .

ANGEWANDTE CHEMIE-INTERNATIONAL EDITION, 2005, 44 (09) :1401-1404

[4] Accurate whole human genome sequencing using reversible terminator chemistry [J].

Bentley, David R. ;

Balasubramanian, Shankar ;

Swerdlow, Harold P. ;

Smith, Geoffrey P. ;

Milton, John ;

Brown, Clive G. ;

Hall, Kevin P. ;

Evers, Dirk J. ;

Barnes, Colin L. ;

Bignell, Helen R. ;

Boutell, Jonathan M. ;

Bryant, Jason ;

Carter, Richard J. ;

Cheetham, R. Keira ;

Cox, Anthony J. ;

Ellis, Darren J. ;

Flatbush, Michael R. ;

Gormley, Niall A. ;

Humphray, Sean J. ;

Irving, Leslie J. ;

Karbelashvili, Mirian S. ;

Kirk, Scott M. ;

Li, Heng ;

Liu, Xiaohai ;

Maisinger, Klaus S. ;

Murray, Lisa J. ;

Obradovic, Bojan ;

Ost, Tobias ;

Parkinson, Michael L. ;

Pratt, Mark R. ;

Rasolonjatovo, Isabelle M. J. ;

Reed, Mark T. ;

Rigatti, Roberto ;

Rodighiero, Chiara ;

Ross, Mark T. ;

Sabot, Andrea ;

Sankar, Subramanian V. ;

Scally, Aylwyn ;

Schroth, Gary P. ;

Smith, Mark E. ;

Smith, Vincent P. ;

Spiridou, Anastassia ;

Torrance, Peta E. ;

Tzonev, Svilen S. ;

Vermaas, Eric H. ;

Walter, Klaudia ;

Wu, Xiaolin ;

Zhang, Lu ;

Alam, Mohammed D. ;

Anastasi, Carole .

NATURE, 2008, 456 (7218) :53-59

[5] Diversity of microRNAs in human and chimpanzee brain [J].

Berezikov, Eugene ;

Thuemmler, Fritz ;

van Laake, Linda W. ;

Kondova, Ivanela ;

Bontrop, Ronald ;

Cuppen, Edwin ;

Plasterk, Ronald H. A. .

NATURE GENETICS, 2006, 38 (12) :1375-1377

[6] Finding effective cancer therapies through loss of function genetic screens [J].

Bernards, Rene .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2014, 24 :23-29

[7]

BLANCO L, 1989, J BIOL CHEM, V264, P8935

[8] Cohesins bind to preferential sites along yeast chromosome III, with differential regulation along arms versus the centric region [J].

Blat, Y ;

Kleckner, N .

CELL, 1999, 98 (02) :249-259

[9] A draft genome of Yersinia pestis from victims of the Black Death [J].

Bos, Kirsten I. ;

Schuenemann, Verena J. ;

Golding, G. Brian ;

Burbano, Hernan A. ;

Waglechner, Nicholas ;

Coombes, Brian K. ;

McPhee, Joseph B. ;

DeWitte, Sharon N. ;

Meyer, Matthias ;

Schmedes, Sarah ;

Wood, James ;

Earn, David J. D. ;

Herring, D. Ann ;

Bauer, Peter ;

Poinar, Hendrik N. ;

Krause, Johannes .

NATURE, 2011, 478 (7370) :506-510

[10] Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes [J].

Chen, Rui ;

Mias, George I. ;

Li-Pook-Than, Jennifer ;

Jiang, Lihua ;

Lam, Hugo Y. K. ;

Chen, Rong ;

Miriami, Elana ;

Karczewski, Konrad J. ;

Hariharan, Manoj ;

Dewey, Frederick E. ;

Cheng, Yong ;

Clark, Michael J. ;

Im, Hogune ;

Habegger, Lukas ;

Balasubramanian, Suganthi ;

O'Huallachain, Maeve ;

Dudley, Joel T. ;

Hillenmeyer, Sara ;

Haraksingh, Rajini ;

Sharon, Donald ;

Euskirchen, Ghia ;

Lacroute, Phil ;

Bettinger, Keith ;

Boyle, Alan P. ;

Kasowski, Maya ;

Grubert, Fabian ;

Seki, Scott ;

Garcia, Marco ;

Whirl-Carrillo, Michelle ;

Gallardo, Mercedes ;

Blasco, Maria A. ;

Greenberg, Peter L. ;

Snyder, Phyllis ;

Klein, Teri E. ;

Altman, Russ B. ;

Butte, Atul J. ;

Ashley, Euan A. ;

Gerstein, Mark ;

Nadeau, Kari C. ;

Tang, Hua ;

Snyder, Michael .

CELL, 2012, 148 (06) :1293-1307

← 1 2 3 4 5 6 7 →