Cited by 577Genomics and Phylogenetic StudiesGenetics, Bioinformatics, and Biomedical ResearchGenomics and Rare Diseases

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The impact of next-generation sequencing on genomics

Open access
Zhang, Jun, Chiodini, Rod, Badr, Ahmed, Zhang, Genfa·2011·Journal of Genetics and Genomics

Abstract

This article reviews basic concepts, general applications, and the potential impact of next-generation sequencing (NGS) technologies on genomics, with particular reference to currently available and possible future platforms and bioinformatics. NGS technologies have demonstrated the capacity to sequence DNA at unprecedented speed, thereby enabling previously unimaginable scientific achievements and novel biological applications. But, the massive data produced by NGS also presents a significant challenge for data storage, analyses, and management solutions. Advanced bioinformatic tools are essential for the successful application of NGS technology. As evidenced throughout this review, NGS technologies will have a striking impact on genomic research and the entire biological field. With its ability to tackle the unsolved challenges unconquered by previous genomic technologies, NGS is likely to unravel the complexity of the human genome in terms of genetic variations, some of which may be confined to susceptible loci for some common human conditions. The impact of NGS technologies on genomics will be far reaching and likely change the field for years to come.

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Crossref · 10.1016/j.jgg.2011.02.003

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Citations

Cites

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  • The sequence of the human genome

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    Self-citation
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    “Following completion of the HGP, a new approach, genome-wide association study (GWAS), was widely applied to genomics.”
    BackgroundInfluential
  • Genome sequencing in microfabricated high-density picolitre reactors

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    “The core philosophy of massive parallel sequencing used in next-generation sequencing (NGS) is adapted from shotgun sequencing (Venter et al., 2003; Margulies et al., 2005; Shendure et al., 2005).”
  • Sequencing technologies – the next generation

    Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066 · cited 4×

    “Since then, several additional diploid human genomes have been sequenced with NGS utilizing a variety of related techniques to rapidly sequence genomes with varying degrees of coverage (Ley et al., 2008; Wang et al., 2008; Ahn et al., 2009; Kim et al., 2009; Yngvadottir et al., 2009; Metzker, 2010).”
    BackgroundInfluential
  • Next-generation DNA sequencing

    Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509 · cited 2×

    “NGS technologies have increased the speed and throughput capacities of DNA sequencing and, as a result, dramatically reduced overall sequencing costs (Mardis, 2006, 2009; Schuster, 2008; Shendure and Ji, 2008; Ng et al., 2009a; Tucker et al., 2009; Metzker, 2010).”
    Background
  • SOAP: Short oligonucleotide alignment program

    Li, R., Li, Y., Kristiansen, K., & Wang, J. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn025 · Cited by 3,597 · cited 2×

    “Benchmarks comparing ELAND with other popular NGS software, such as MAQ, BLAST (Basic Local Alignment Search Tool), SOAP (Short Oligonucleotide Alignment Program) (Li et al., 2008b), and SeqMap (Jiang and Wong, 2008), etc. (Table 3), generally place ELAND as one of the fastest available programs.”
    Method
  • De novo assembly of human genomes with massively parallel short read sequencing

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    “Individual human genomes (one Asian and one African) have been successfully sequenced and assembled using the Illumina Genome Analyzer (read lengths ranged from 35 to 75 basepairs) with a modified SOAP program, SOAPdenovo (Li et al., 2010).”
    Method
  • Mapping short DNA sequencing reads and calling variants using mapping quality scores

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    “Benchmarks comparing ELAND with other popular NGS software, such as MAQ, BLAST (Basic Local Alignment Search Tool), SOAP (Short Oligonucleotide Alignment Program) (Li et al., 2008b), and SeqMap (Jiang and Wong, 2008), etc. (Table 3), generally place ELAND as one of the fastest available programs.”
    Method
  • The potential and challenges of nanopore sequencing

    Branton, D., Deamer, D. W., Marziali, A., Bayley, H., Benner, S. A., Butler, T. J., Ventra, M. D., Garaj, S., Hibbs, A. H., Huang, X. C., et al. (2008) · Nature Biotechnology · doi:10.1038/nbt.1495 · Cited by 2,534 · cited 1×

    “Nano-technologies have long been considered a cutting-edge technology for single-molecule DNA sequencing (Iqbal et al., 2007; Branton et al., 2008) and several nanopore sequencing concepts and technologies are currently under development.”
    Background

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Metadata

Authors
Zhang, J., Chiodini, R., Badr, A., & Zhang, G.
Affiliations
  • Texas Tech University Health Sciences Center (US)
  • Beijing Normal University (CN)
Corresponding author
Zhang, Jun
Venue
Journal of Genetics and Genomics
Publisher
Elsevier BV
Published
2011-03
Volume
38
Issue
3
Pages
95-109
ISSN
  • 1873-5533 (ISSN-L)
  • 1673-8527
OpenAlex
W2083854815
Cited by
577
References
98
Citations by year
2026: 10 · 2025: 11 · 2024: 32 · 2023: 22 · 2022: 23 · 2021: 34 · 2020: 45 · 2019: 50 · 2018: 39 · 2017: 38 · 2016: 47 · 2015: 52 · 2014: 50 · 2013: 44 · 2012: 64
FWCI
4.94
Type
journal article
Language
en
Open access
Locations
  • Journal of genetics and genomics/Journal of Genetics and Genomics (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute of Neurological Disorders and Stroke (R21NS061191)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genetics, Bioinformatics, and Biomedical Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
next-generation sequencing, genomics, sequencing platforms, bioinformatics software, genomic data storage, genetic variation, human genome, sequencing data analysis
MeSH terms
Humans, Software, Genetic Variation, Sequence Alignment, Sequence Analysis, DNA, Computational Biology, Genomics, Nanotechnology, Precision Medicine

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