The DOI matches its Crossref record; 98 of the 98 references it cites were found in a registry or an index.
The impact of next-generation sequencing on genomics
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Self-citationFinding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · cited 9×
“Following completion of the HGP, a new approach, genome-wide association study (GWAS), was widely applied to genomics.”
BackgroundInfluentialGenome sequencing in microfabricated high-density picolitre reactors
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., et al. (2005) · Nature · doi:10.1038/nature03959 · Cited by 7,693 · cited 1×
“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).”
BackgroundInfluentialNext-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).”
BackgroundSOAP: 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.”
MethodDe novo assembly of human genomes with massively parallel short read sequencing
Li, R., Zhu, H., Ruan, J., Qian, W., Fang, X., Shi, Z., Li, Y., Li, S., Shan, G., Kristiansen, K., et al. (2010) · Genome Research · doi:10.1101/gr.097261.109 · Cited by 2,926 · cited 1×
“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).”
MethodMapping short DNA sequencing reads and calling variants using mapping quality scores
Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638 · 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.”
MethodThe 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
Cited by
Sorted by citations
Nucleic acid-based approaches to investigate microbial-related cheese quality defects
O'Sullivan, D. J., Giblin, L. M., McSweeney, P. L. H., Sheehan, J. J., & Cotter, P. D. (2013) · Frontiers in Microbiology · doi:10.3389/fmicb.2013.00001 · Cited by 1,423
Next‐generation sequencing technologies for environmental DNA research
Shokralla, S., Spall, J. L., Gibson, J. F., & Hajibabaei, M. (2012) · Molecular Ecology · doi:10.1111/j.1365-294x.2012.05538.x · Cited by 1,007
“Although available NGS technologies utilize quite diverse chemistry and base incorporation ⁄ detection tools, they share two main steps: library fragmentation ⁄ amplicon library preparation and detection of the incorporated nucleotides (Glenn 2011; Zhang et al. 2011).”
BackgroundReactome pathway analysis: a high-performance in-memory approach
Fabregat, A., Sidiropoulos, K., Viteri, G., Forner, O., Marín-García, P., Arnau, V., D’Eustachio, P., Stein, L. D., & Hermjakob, H. (2017) · BMC Bioinformatics · doi:10.1186/s12859-017-1559-2 · Cited by 884
“Since the size of the data samples is constantly increasing [2, 3], Reactome offers a set of pathway analysis tools which aim to deal with this scenario and yet provide reliable and accurate results with interactive (seconds) response time for genome-wide datasets.”
BackgroundZhang, G., Liu, X., Quan, Z., Cheng, S., Xu, X., Pan, S., Xie, M., Zeng, P., Yue, Z., Wang, W., et al. (2012) · Nature Biotechnology · doi:10.1038/nbt.2195 · Cited by 794
Self-citationDual RNA-seq of pathogen and host
Westermann, A. J., Gorski, S. A., & Vogel, J. (2012) · Nature Reviews Microbiology · doi:10.1038/nrmicro2852 · Cited by 782
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
- PMC
- PMC3076108
- 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
- green
- www.ncbi.nlm.nih.gov
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review