Abstract
Optical and biochemical methods determine the sequence of nucleotide bases in a DNA macromolecule. Since 2010, considerable progress has been made on DNA sequencing technology. There are various high-throughput sequencing (HTS) technologies, such as Roche 454, Illumina dye sequencing, PacBio’s SMRT, Ion Torrent, Oxford Nanopore, SOLiD, and DNA nano-array sequencer, that have emerged with less cost and are time-saving. Sanger sequencing is the first-generation sequencing method. Subsequently, many next-generation sequencing (NGS) platforms are being used for genome sequencing. These DNA sequencing technologies have altered our view on understanding genomes and their analysis. This chapter presents a simple overview of the HTS technologies, their applications, and limitations. We aim to provide readers in the field with an easy and comprehensible description of HTS technologies to provide them with essential knowledge in full zeal.
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Abbreviations
- ARE:
-
Parallel analysis of RNA ends
- BAM:
-
Binary alignment map
- CAGE:
-
Cap analysis of gene expression
- ChIA-PET:
-
Chromatin interaction analysis by paired-end tag sequencing
- DOE:
-
Department of Energy
- HTS:
-
High-throughput sequencing
- ISPs:
-
Ion Sphere Particles
- NGS:
-
Next-Generation Sequencing
- NHGRI:
-
National Human Genome Research Institute
- NIH:
-
National Institute of Health
- PCR:
-
Polymerase chain reaction
- RIP-chip:
-
RNA immunoprecipitation chip
- RNA-Map:
-
RNA on a massively parallel array
- SBS:
-
Sequencing by synthesis
- SMRT:
-
Single molecule real-time
- SNVs:
-
Single nucleotide variants
- SOLiD:
-
Sequencing by sequential ligation of oligonucleotide probes
- Svs:
-
Structural variations
- TADs:
-
Topological Associated Domains
- XIAP:
-
X-lined inhibitor of apoptosis
References
Padilla-Sanchez V, Gao S, Kim HR, Kihara D, Sun L, Rossmann MG, et al. Structure-function analysis of the DNA translocating portal of the bacteriophage T4 packaging machine. J Mol Biol. 2014;426(5):1019–38.
Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74(12):5463–7. https://doi.org/10.1073/pnas.74.12.5463. PMID: 271968; PMCID: PMC431765.
Pereira R, Oliveira J, Sousa M. Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics. J Clin Med. 2020;9(1):132.
Slatko BE, Gardner AF, Ausubel FM. Overview of next-generation sequencing technologies. Curr Protoc Mol Biol. 2018;122(1):e59.
Harrington CT, Lin EI, Olson MT, Eshleman JR. Fundamentals of pyrosequencing. Arch Pathol Lab Med. 2013;137(9):1296–303.
Ye H, Meehan J, Tong W, Hong H. Alignment of short reads: a crucial step for application of next-generation sequencing data in precision medicine. Pharmaceutics. 2015;7(4):523–41.
Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94(3):441–8.
Chung CAB, Boyd VL, McKernan KJ, Fu Y, Monighetti C, Peckham HE, et al. Whole methylome analysis by ultra-deep sequencing using two-base encoding. PLoS One. 2010;5(2):e9320.
Pu D, Chen J, Bai Y, Tu J, Xie H, Wang W, et al. Sequencing-by-ligation using oligonucleotide probes with 3′-thio-deoxyinosine. J Biomed Nanotechnol. 2014;10(5):751–9.
Gupta N, Verma VK. Next-generation sequencing and its application: empowering in public health beyond reality. In: Arora PK, editor. Microbial technology for the welfare of society, Microorganisms for sustainability. Singapore: Springer; 2019. p. 313–41. https://doi.org/10.1007/978-981-13-8844-6_15.
Mirzabekov AD. DNA sequencing by hybridization—a megasequencing method and a diagnostic tool? Trends Biotechnol. 1994;12(1):27–32.
Drmanac R, Drmanac S, Chui G, Diaz R, Hou A, Jin H, et al. Sequencing by hybridization (SBH): advantages, achievements, and opportunities. Adv Biochem Eng Biotechnol. 2002;77:75–101.
Qin Y, Schneider TM, Brenner MP. Sequencing by hybridization of long targets. PLoS One. 2012;7(5):e35819.
Luo C, Tsementzi D, Kyrpides N, Read T, Konstantinidis KT. Direct comparisons of Illumina vs. Roche 454 sequencing technologies on the same microbial community DNA sample. PLoS One. 2012;7(2):e30087.
Verma V, Gupta A, Chaudhary VK. Emulsion PCR made easy. BioTechniques. 2020;69(1):421–6.
Nyrén P. The history of pyrosequencing(®). Methods Mol Biol. 2015;1315:3–15.
Buermans HPJ, den Dunnen JT. Next generation sequencing technology: advances and applications. Biochim Biophys Acta. 2014;1842(10):1932–41.
Heather JM, Chain B. The sequence of sequencers: the history of sequencing DNA. Genomics. 2016;107(1):1–8.
Ambardar S, Gupta R, Trakroo D, Lal R, Vakhlu J. High throughput sequencing: an overview of sequencing chemistry. Indian J Microbiol. 2016;56(4):394–404.
García-Chequer AJ, Méndez-Tenorio A, Olguín-López G, Sánchez-Vallejo C, Isa P, Arias CF, et al. Illumina next generation sequencing data and expression microarrays data from retinoblastoma and medulloblastoma tissues. Data Brief. 2016;6:908–16.
Salipante SJ, Kawashima T, Rosenthal C, Hoogestraat DR, Cummings LA, Sengupta DJ, et al. Performance comparison of Illumina and ion torrent next-generation sequencing platforms for 16S rRNA-based bacterial community profiling. Appl Environ Microbiol. 2014;80(24):7583–91.
Xu Y, Lin Z, Tang C, Tang Y, Cai Y, Zhong H, et al. A new massively parallel nanoball sequencing platform for whole exome research. BMC Bioinform. 2019;20(1):153.
Porreca GJ. Genome sequencing on nanoballs. Nat Biotechnol. 2010;28(1):43–4.
Nakano K, Shiroma A, Shimoji M, Tamotsu H, Ashimine N, Ohki S, et al. Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area. Hum Cell. 2017;30(3):149–61.
Petersen LM, Martin IW, Moschetti WE, Kershaw CM, Tsongalis GJ. Third-generation sequencing in the clinical laboratory: exploring the advantages and challenges of nanopore sequencing. J Clin Microbiol. 2019;58(1):e01315–9.
Jadhav V, Hoogerheide DP, Korlach J, Wanunu M. Porous zero-mode waveguides for picogram-level DNA capture. Nano Lett. 2019;19(2):921–9.
Mardis ER. Next-generation sequencing platforms. Annu Rev Anal Chem (Palo Alto, Calif). 2013;6:287–303.
ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489(7414):57–74.
Siva N. 1000 genomes project. Nat Biotechnol. 2008;26(3):256.
GTEx Consortium. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45(6):580–5.
Chen J, Li X, Zhong H, Meng Y, Du H. Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers. Sci Rep. 2019;9(1):9345.
Saunders CT, Wong WSW, Swamy S, Becq J, Murray LJ, Cheetham RK. Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs. Bioinformatics. 2012;28(14):1811–7.
Becker KG, Barnes KC, Bright TJ, Wang SA. The genetic association database. Nat Genet. 2004;36(5):431–2.
Wlasnowolski M, Sadowski M, Czarnota T, Jodkowska K, Szalaj P, Tang Z, et al. 3D-GNOME 2.0: a three-dimensional genome modeling engine for predicting structural variation-driven alterations of chromatin spatial structure in the human genome. Nucleic Acids Res. 2020;48(W1):W170–6.
Keen G, Burton J, Crowley D, Dickinson E, Espinosa-Lujan A, Franks E, et al. The Genome Sequence DataBase (GSDB): meeting the challenge of genomic sequencing. Nucleic Acids Res. 1996;24(1):13–6.
Chou H-C, Acevedo-Luna N, Kuhlman JA, Schneider SQ. PdumBase: a transcriptome database and research tool for Platynereis dumerilii and early development of other metazoans. BMC Genomics. 2018;19(1):618.
Buza TM, Tonui T, Stomeo F, Tiambo C, Katani R, Schilling M, et al. IMAP: an integrated bioinformatics and visualization pipeline for microbiome data analysis. BMC Bioinform. 2019;20(1):374.
Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, et al. Human gene mutation database-a biomedical information and research resource. Hum Mutat. 2000;15(1):45–51.
Varshney GK, Carrington B, Pei W, Bishop K, Chen Z, Fan C, et al. A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish. Nat Protoc. 2016;11(12):2357–75.
Dong Q, Schlueter SD, Brendel V. PlantGDB, plant genome database and analysis tools. Nucleic Acids Res. 2004;32(Database issue):D354–9.
Bolser DM, Staines DM, Perry E, Kersey PJ. Ensembl plants: integrating tools for visualizing, mining, and analyzing plant genomic data. In: van Dijk ADJ, editor. Plant genomics databases: methods and protocols, Methods in molecular biology. New York: Springer; 2017. p. 1–31. https://doi.org/10.1007/978-1-4939-6658-5_1.
Yu Y, Wang Y, Xia Z, Zhang X, Jin K, Yang J, et al. PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. Nucleic Acids Res. 2019;47(D1):D1090–101.
Fang Y, Quan J, Hua X, Feng Y, Li X, Wang J, et al. Complete genome sequence of Acinetobacter baumannii XH386 (ST208), a multi-drug resistant bacteria isolated from pediatric hospital in China. Genom Data. 2016;7:269–74.
Mundade R, Ozer HG, Wei H, Prabhu L, Lu T. Role of ChIP-seq in the discovery of transcription factor binding sites, differential gene regulation mechanism, epigenetic marks and beyond. Cell Cycle. 2014;13(18):2847–52.
Boyle AP, Davis S, Shulha HP, Meltzer P, Margulies EH, Weng Z, et al. High-resolution mapping and characterization of open chromatin across the genome. Cell. 2008;132(2):311–22.
Li G, Cai L, Chang H, Hong P, Zhou Q, Kulakova EV, et al. Chromatin Interaction analysis with paired-end tag (ChIA-PET) sequencing technology and application. BMC Genomics. 2014;15(Suppl 12):S11.
Mirny LA. The fractal globule as a model of chromatin architecture in the cell. Chromosom Res. 2011;19(1):37–51.
Lowe R, Shirley N, Bleackley M, Dolan S, Shafee T. Transcriptomics technologies. PLoS Comput Biol. 2017;13(5):e1005457.
Yu L, Shao C, Ye X, Meng Y, Zhou Y, Chen M. miRNA Digger: a comprehensive pipeline for genome-wide novel miRNA mining. Sci Rep. 2016;6:18901.
Hills RD, Pontefract BA, Mishcon HR, Black CA, Sutton SC, Theberge CR. Gut microbiome: profound implications for diet and disease. Nutrients [Internet]. 2019 [cited 2021 Jan 5]; 11(7). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682904/.
Arnold JW, Roach J, Azcarate-Peril MA. Emerging technologies for gut microbiome research. Trends Microbiol. 2016;24(11):887–901.
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledge base of human genes and genetic disorders. Nucleic Acids Res. 2005;33(Suppl_1):D514–7.
Cifaldi C, Chiriaco M, Matteo GD, Cesare SD, Alessia S, Angelis PD, et al. Novel X-linked inhibitor of apoptosis mutation in very early-onset inflammatory bowel disease child successfully treated with HLA-haploidentical hemapoietic stem cells transplant after removal of αβT and B cells. Front Immunol [Internet]. 2017 [cited 2021 Jan 5]; 8. Available from: https://moh-it.pure.elsevier.com/en/publications/novel-x-linked-inhibitor-of-apoptosis-mutation-in-very-early-onse-3.
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Nature. 2020;578(7793):82–93.
Lim Z-F, Ma PC. Emerging insights of tumor heterogeneity and drug resistance mechanisms in lung cancer targeted therapy. J Hematol Oncol. 2019;12(1):134.
Green ED, Watson JD, Collins FS. Human genome project: twenty-five years of big biology. Nature. 2015;526(7571):29–31.
Collins FS, Morgan M, Patrinos A. The human genome project: lessons from large-scale biology. Science. 2003;300(5617):286–90.
Jones KM, Ankeny RA, Cook-Deegan R. The Bermuda triangle: the pragmatics, policies, and principles for data sharing in the history of the human genome project. J Hist Biol. 2018;51(4):693–805.
McEwen JE, Boyer JT, Sun KY, Rothenberg KH, Lockhart NC, Guyer MS. The Ethical, Legal, and Social Implications Program of the National Human Genome Research Institute: reflections on an ongoing experiment. Annu Rev Genomics Hum Genet. 2014;15:481–505.
Sekse C, Holst-Jensen A, Dobrindt U, Johannessen GS, Li W, Spilsberg B, et al. High throughput sequencing for detection of foodborne pathogens. Front Microbiol [Internet]. 2017 [cited 2021 Jan 5]; 8. Available from: https://www.frontiersin.org/articles/10.3389/fmicb.2017.02029/full.
Dong L, Wang W, Li A, Kansal R, Chen Y, Chen H, et al. Clinical next generation sequencing for precision medicine in cancer. Curr Genomics. 2015;16(4):253–63.
Sboner A, Mu XJ, Greenbaum D, Auerbach RK, Gerstein MB. The real cost of sequencing: higher than you think! Genome Biol. 2011;12(8):125.
Mardis ER. The $1,000 genome, the $100,000 analysis? Genome Med. 2010;2(11):84.
Moorthie S, Hall A, Wright CF. Informatics and clinical genome sequencing: opening the black box. Genet Med. 2013;15(3):165–71.
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Elumalai, E., Gupta, K.K. (2021). High-Throughput Sequencing Technologies. In: Gupta, M.K., Behera, L. (eds) Bioinformatics in Rice Research. Springer, Singapore. https://doi.org/10.1007/978-981-16-3993-7_13
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