The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Next-generation sequencing and its applications in molecular diagnostics
Abstract
DNA sequencing is a powerful approach for decoding a number of human diseases, including cancers. The advent of next-generation sequencing (NGS) technologies has reduced sequencing cost by orders of magnitude and significantly increased the throughput, making whole-genome sequencing a possible way for obtaining global genomic information about patients on whom clinical actions may be taken. However, the benefits offered by NGS technologies come with a number of challenges that must be adequately addressed before they can be transformed from research tools to routine clinical practices. This article provides an overview of four commonly used NGS technologies from Roche Applied Science//454 Life Sciences, Illumina, Life Technologies and Helicos Biosciences. The challenges in the analysis of NGS data and their potential applications in clinical diagnosis are also discussed.
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Trapnell, C., Williams, B. A., Pertea, G., Mortazavi, A., Kwan, G., van Baren, M. J., Salzberg, S. L., Wold, B. J., & Pachter, L. (2010) · Nature Biotechnology · doi:10.1038/nbt.1621 · Cited by 15,556
RNA-Seq: a revolutionary tool for transcriptomics
Wang, Z., Gerstein, M., & Snyder, M. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2484 · Cited by 13,174
<tt>BLAT</tt> —The <tt>BLAST</tt> -Like Alignment Tool
Kent, W. J. (2002) · Genome Research · doi:10.1101/gr.229202 · Cited by 8,480
Sequencing technologies – the next generation
Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
Guttman, M., Amit, I., Garber, M., French, C., Lin, M. F., Feldser, D., Huarte, M., Zuk, O., Carey, B. W., Cassady, J. P., et al. (2009) · Nature · doi:10.1038/nature07672 · Cited by 4,098
ChIP–seq: advantages and challenges of a maturing technology
Park, P. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2641 · Cited by 2,217
MAQC Consortium, Shi, L., Shi, L., Reid, L. H., Jones, W. D., Shippy, R., Warrington, J. A., Baker, S. C., Collins, P. J., de Longueville, F., et al. (2006) · Nature Biotechnology · doi:10.1038/nbt1239 · Cited by 2,126
Self-citationThe complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838
A comprehensive catalogue of somatic mutations from a human cancer genome
Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature · doi:10.1038/nature08658 · Cited by 1,696
Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
Yi, X., Liang, Y., Huerta-Sanchez, E., Jin, X., Cuo, Z. X. P., Pool, J. E., Xu, X., Jiang, H., Vinckenbosch, N., Korneliussen, T. S., et al. (2010) · Science · doi:10.1126/science.1190371 · Cited by 1,611
Cited by
DNA Qualification Workflow for Next Generation Sequencing of Histopathological Samples
Simbolo, M., Gottardi, M., Corbo, V., Fassan, M., Mafficini, A., Malpeli, G., Lawlor, R. T., & Scarpa, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0062692 · Cited by 282
Morazán-Fernández, D., Mora, J., & Molina-Mora, J. A. (2023) · Phenomics · doi:10.1007/s43657-022-00084-9 · Cited by 28
Metadata
- Authors
- Su, Z., Ning, B., Fang, H., Hong, H., Perkins, R., Tong, W., & Shi, L.
- Venue
- Expert Review of Molecular Diagnostics
- Publisher
- Informa UK Limited
- Published
- 2011-04
- Volume
- 11
- Issue
- 3
- Pages
- 333-343
- ISSN
- 1473-7159 (ISSN-L)
- 1744-8352
- OpenAlex
- W2172173047
- Cited by
- 179
- References
- 15
- FWCI
- 14.43
- Type
- journal article
- Language
- en
- Open access
- closed
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- Su, Z., Ning, B., Fang, H., Hong, H., Perkins, R., Tong, W., & Shi, L. (2011). Next-generation sequencing and its applications in molecular diagnostics. Expert Review of Molecular Diagnostics. https://doi.org/10.1586/erm.11.3
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
