Abstract
DNA sequences can be used for the analysis of genetic variation and gene function. The high-throughput sequencing techniques that have been developed over the past three years can read as many as one billion bases per run, and are far less expensive than the traditional Sanger sequencing method. Therefore, the high-throughput sequencing has been applied extensively to genomic analyses, such as screening for mutations, construction of genomic methylation maps, and the study of DNA-protein interactions. Although they have only been available for a short period, high-throughput sequencing techniques are profoundly affecting many of the life sciences, and are opening out new potential avenues of research. With the highly-developed commercial high-throughput sequencing platforms, each laboratory has the opportunity to explore this research field. Therefore, in this paper, we have focused on commercially-popular high-throughput sequencing techniques and the ways in which they have been applied over the past three years.
Similar content being viewed by others
Explore related subjects
Discover the latest articles and news from researchers in related subjects, suggested using machine learning.Abbreviations
- ChIP:
-
chromatin immunoprecipitation
- OUT:
-
operational taxonomic unit
References
Barski A., Cuddapah S., Cui K., Roh T.Y., Schones D.E., Wang Z., Wei G., Chepelev I. & Zhao K. 2007. High-resolution profiling of histone methylations in the human genome. Cell 129: 823–837.
Bayley H. 2006. Sequencing single molecules of DNA. Curr. Opin. Chem. Biol. 10: 628–637.
Bennett S. 2004. Solexa Ltd. Pharmacogenomics 5: 433–438.
Bennett S.T., Barnes C., Cox A., Davies L. & Brown C. 2005. Toward the 1,000 dollars human genome. Pharmacogenomics 6: 373–382.
Bentley D.R. 2006. Whole-genome re-sequencing. Curr. Opin. Genet. Dev. 16: 545–552.
Blazej R.G., Kumaresan P. & Mathies R.A. 2006. Microfabricated bioprocessor for integrated nanoliter-scale Sanger DNA sequencing. Proc. Natl. Acad. Sci. USA 103: 7240–7245.
Blow N. 2007. Genomics: the personal side of genomics. Nature 449: 627–630.
Boyle A.P., Davis S., Shulha H.P., Meltzer P., Margulies E.H., Weng Z., Furey T.S. & Crawford G.E. 2008. High-resolution mapping and characterization of open chromatin across the genome. Cell 132: 311–322.
Cao X., Springer N.M., Muszynski M.G., Phillips R.L., Kaeppler S. & Jacobsen S.E. 2000. Conserved plant genes with similarity to mammalian de novo DNA methyltransferases. Proc. Natl. Acad. Sci. USA 97: 4979–4984.
Cokus S.J., Feng S., Zhang X., Chen Z., Merriman B., Haudenschild C.D., Pradhan S., Nelson S.F., Pellegrini M. & Jacobsen S.E. 2008. Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning. Nature 452: 215–219.
Denver D.R., Morris K. & Thomas W.K. 2003. Phylogenetics in Caenorhabditis elegans: an analysis of divergence and out-crossing. Mol. Biol. Evol. 20: 393–400.
Edwards R.A., Rodriguez-Brito B., Wegley L., Haynes M., Breitbart M., Peterson D.M., Saar M.O., Alexander S., Alexander Jr. E.C. & Rohwer F. 2006. Using pyrosequencing to shed light on deep mine microbial ecology. BMC Genomics 7: 57.
Fields S. 2007. Molecular biology. Site-seeing by sequencing. Science 316: 1441–1442.
Forrest W.F. & Cavet G. 2007. Comment on “The consensus coding sequences of human breast and colorectal cancers”. Science 317: 1500.
Fredlake C.P., Hert D.G., Kan C.W., Chiesl T.N., Root B.E., Forster R.E. & Barron A.E. 2008. Ultrafast DNA sequencing on a microchip by a hybrid separation mechanism that gives 600 bases in 6.5 minutes. Proc. Natl. Acad. Sci. USA 105: 476–481.
Getz G., Hofling H., Mesirov J.P., Golub T.R., Meyerson M., Tibshirani R. & Lander E.S. 2007. Comment on “The consensus coding sequences of human breast and colorectal cancers”. Science 317: 1500.
Goldberg S.M.D., Johnson J., Busam D., Feldblyum T., Ferriera S., Friedman R., Halpern A., Khouri H., Kravitz S.A. & Lauro F.M. 2006. A Sanger/pyrosequencing hybrid approach for the generation of high-quality draft assemblies of marine microbial genomes. Proc. Natl. Acad. Sci. USA 103: 11240–11245.
Hall N. 2007. Advanced sequencing technologies and their wider impact in microbiology. J. Exp. Biol. 210: 1518–1525.
Harris T.D., Buzby P.R., Babcock H., Beer E., Bowers J., Braslavsky I., Causey M., Colonell J., Dimeo J., Efcavitch J.W., Giladi E., Gill J., Healy J., Jarosz M., Lapen D., Moulton K., Quake S.R., Steinmann K., Thayer E., Tyurina A., Ward R., Weiss H. & Xie Z. 2008. Single-molecule DNA sequencing of a viral genome. Science 320: 106–109.
Hillier L.W., Marth G.T., Quinlan A.R., Dooling D., Fewell G., Barnett D., Fox P., Glasscock J.I., Hickenbotham M., Huang W., Magrini V.J., Richt R.J., Sander S.N., Stewart D.A., Stromberg M., Tsung E.F., Wylie T., Schedl T., Wilson R.K. & Mardis E.R. 2008. Whole-genome sequencing and variant discovery in C. elegans. Nat. Methods 5: 183–188.
Hodges E., Xuan Z., Balija V., Kramer M., Molla M.N., Smith S.W., Middle C.M., Rodesch M.J., Albert T.J., Hannon G.J. & McCombie W.R. 2007. Genome-wide in situ exon capture for selective resequencing. Nat. Genet. 39: 1522–1527.
Hutchison C.A., 3rd. 2007. DNA sequencing: bench to bedside and beyond. Nucleic Acids Res. 35: 6227–6237.
Jia D., Jurkowska R.Z., Zhang X., Jeltsch A. & Cheng X. 2007. Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. Nature 449: 248–251.
Johnson D.S., Li W., Gordon D.B., Bhattacharjee A., Curry B., Ghosh J., Brizuela L., Carroll J.S., Brown M., Flicek P., Koch C.M., Dunham I., Bieda M., Xu X., Farnham P.J., Kapranov P., Nix D.A., Gingeras T.R., Zhang X., Holster H., Jiang N., Green R.D., Song J.S., McCuine S.A., Anton E., Nguyen L., Trinklein N.D., Ye Z., Ching K., Hawkins D., Ren B., Scacheri P.C., Rozowsky J., Karpikov A., Euskirchen G., Weissman S., Gerstein M., Snyder M., Yang A., Moqtaderi Z., Hirsch H., Shulha H.P., Fu Y., Weng Z., Struhl K., Myers R.M., Lieb J.D. & Liu X.S. 2008. Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets. Genome Res. 18: 393–403.
Johnson D.S., Mortazavi A., Myers R.M. & Wold B. 2007. Genome-wide mapping of in vivo protein-DNA interactions. Science 316: 1497–1502.
Lang X.Y., Wang J. & Chi X.B. 2008. The research progress of tiling array technology and applications. Chinese Sci. Bull. 53: 817–824.
Li X., Wang X., He K., Ma Y., Su N., He H., Stolc V., Tongprasit W., Jin W., Jiang J., Terzaghi W., Li S. & Deng X.W. 2008. High-resolution mapping of epigenetic modifications of the rice genome uncovers interplay between DNA methylation, histone methylation, and gene expression. Plant Cell 20: 259–276.
Mardis E.R. 2006. Anticipating the 1,000 dollar genome. Genome Biol. 7: 112.
Mardis E.R. 2007. ChIP-seq: welcome to the new frontier. Nat. Methods 4: 613–614.
Margulies M., Egholm M., Altman W.E., Attiya S., Bader J.S., Bemben L.A., Berka J., Braverman M.S., Chen Y.J., Chen Z., Dewell S.B., Du L., Fierro J.M., Gomes X.V., Godwin B.C., He W., Helgesen S., Ho C.H., Irzyk G.P., Jando S.C., Alenquer M.L., Jarvie T.P., Jirage K.B., Kim J.B., Knight J.R., Lanza J.R., Leamon J.H., Lefkowitz S.M., Lei M., Li J., Lohman K.L., Lu H., Makhijani V.B., McDade K.E., McKenna M.P., Myers E.W., Nickerson E., Nobile J.R., Plant R., Puc B.P., Ronan M.T., Roth G.T., Sarkis G.J., Simons J.F., Simpson J.W., Srinivasan M., Tartaro K.R., Tomasz A., Vogt K.A., Volkmer G.A., Wang S.H., Wang Y., Weiner M.P., Yu P., Begley R.F. & Rothberg J.M. 2005. Genome sequencing in microfabricated high-density picolitre reactors. Nature 437: 376–380.
McCutcheon J.P. & Moran N.A. 2007. Parallel genomic evolution and metabolic interdependence in an ancient symbiosis. Proc. Natl. Acad. Sci. USA 104: 19392–19397.
Mikkelsen T.S., Ku M., Jaffe D.B., Issac B., Lieberman E., Giannoukos G., Alvarez P., Brockman W., Kim T.K., Koche R.P., Lee W., Mendenhall E., O’Donovan A., Presser A., Russ C., Xie X., Meissner A., Wernig M., Jaenisch R., Nusbaum C., Lander E.S. & Bernstein B.E. 2007. Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448: 553–560.
Moore M.J., Dhingra A., Soltis P.S., Shaw R., Farmerie W.G., Folta K.M. & Soltis D.E. 2006. Rapid and accurate pyrosequencing of angiosperm plastid genomes. BMC Plant Biol 6: 17.
Ng P., Tan J.J.S., Ooi H.S., Lee Y.L., Chiu K.P., Fullwood M.J., Srinivasan K.G., Perbost C., Du L. & Sung W.K. 2006. Multiplex sequencing of paired-end ditags (MS-PET): a strategy for the ultra-high-throughput analysis of transcriptomes and genomes. Nucleic Acids Res. 34: e84.
Olson M. 2007. Enrichment of super-sized resequencing targets from the human genome. Nat. Methods 4: 891–892.
Peng H., Zhang J. & Wu X.J. 2008. The ploidy effects in plant gene expression: progress, problems and prospects. Sci. China Ser. C Life Sciences 51: 295–301.
Porreca G.J., Zhang K., Li J.B., Xie B., Austin D., Vassallo S.L., LeProust E.M., Peck B.J., Emig C.J., Dahl F., Gao Y., Church G.M. & Shendure J. 2007. Multiplex amplification of large sets of human exons. Nat. Methods 4: 931–936.
Robertson G., Hirst M., Bainbridge M., Bilenky M., Zhao Y., Zeng T., Euskirchen G., Bernier B., Varhol R. & Delaney A. 2007. Genome-wide profiles of STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencing. Nat. Methods 4: 651–657.
Romeo S., Pennacchio L.A., Fu Y., Boerwinkle E., Tybjaerg-Hansen A., Hobbs H.H. & Cohen J.C. 2007. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat. Genet. 39: 513–516.
Rubin A.F. & Green P. 2007. Comment on “The consensus coding sequences of human breast and colorectal cancers”. Science 317: 1500.
Ryan D., Rahimi M., Lund J., Mehta R. & Parviz B.A. 2007. Toward nanoscale genome sequencing. Trends Biotechnol. 25: 385–389.
Schones D.E., Cui K., Cuddapah S., Roh T.Y., Barski A., Wang Z., Wei G. & Zhao K. 2008. Dynamic regulation of nucleosome positioning in the human genome. Cell 132: 887–898.
Service R.F. 2006. Gene sequencing. The race for the $1000 genome. Science 311: 1544–1546.
Shendure J., Porreca G.J., Reppas N.B., Lin X., McCutcheon J.P., Rosenbaum A.M., Wang M.D., Zhang K., Mitra R.D. & Church G.M. 2005. Accurate multiplex polony sequencing of an evolved bacterial genome. Science 309: 1728–1732.
Sjoblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W. & Velculescu V.E. 2006. The consensus coding sequences of human breast and colorectal cancers. Science 314: 268–274.
Sogin M.L., Morrison H.G., Huber J.A., Mark Welch D., Huse S.M., Neal P.R., Arrieta J.M. & Herndl G.J. 2006. Microbial diversity in the deep sea and the underexplored “rare biosphere”. Proc. Natl. Acad. Sci. USA 103: 12115–12120.
Storm A.J., Chen J.H., Zandbergen H.W. & Dekker C. 2005a. Translocation of double-strand DNA through a silicon oxide nanopore. Phys. Rev. E. Stat. Nonlin. Soft Matter. Phys. 71: 051903.
Storm A.J., Storm C., Chen J., Zandbergen H., Joanny J.F. & Dekker C. 2005b. Fast DNA translocation through a solid-state nanopore. Nano. Lett. 5: 1193–1197.
Tartaglia M., Pennacchio L.A., Zhao C., Yadav K.K., Fodale V., Sarkozy A., Pandit B., Oishi K., Martinelli S., Schackwitz W., Ustaszewska A., Martin J., Bristow J., Carta C., Lepri F., Neri C., Vasta I., Gibson K., Curry C.J., Siguero J.P., Digilio M.C., Zampino G., Dallapiccola B., Bar-Sagi D. & Gelb B.D. 2007. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat. Genet. 39: 75–79.
Velicer G.J., Raddatz G., Keller H., Deiss S., Lanz C., Dinkelacker I. & Schuster S.C. 2006. Comprehensive mutation identification in an evolved bacterial cooperator and its cheating ancestor. Proc. Natl. Acad. Sci. USA 103: 8107–8112.
Wold B. & Myers R.M. 2008. Sequence census methods for functional genomics. Nat. Methods 5: 19–21.
Zhang X.Y., Yazaki J., Sundaresan A., Cokus S., Chan S.W., Chen H., Henderson I.R., Shinn P., Pellegrini M., Jacobsen S.E. & Ecker J.R. 2006. Genome-wide high-resolution mapping and functional analysis of DNA methylation in Arabidopsis. Cell 126: 1189–1201.
Zilberman D., Gehring M., Tran R.K., Ballinger T. & Henikoff S. 2007. Genome-wide analysis of Arabidopsis thaliana DNA methylation uncovers an interdependence between methylation and transcription. Nat. Genet 39: 61–69.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Peng, H., Zhang, J. Commercial high-throughput sequencing and its applications in DNA analysis. Biologia 64, 20–26 (2009). https://doi.org/10.2478/s11756-009-0028-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.2478/s11756-009-0028-4