The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
Open accessAbstract
Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-generation sequencing (NGS), in which a selected fraction of genes is sequenced, may circumvent these shortcomings. We aimed to determine whether the sensitivity and specificity of targeted NGS is equal to those of SS. We constructed a targeted enrichment kit that includes 48 genes associated with hereditary cardiomyopathies. In total, 84 individuals with cardiomyopathies were sequenced using 151 bp paired-end reads on an Illumina MiSeq sequencer. The reproducibility was tested by repeating the entire procedure for five patients. The coverage of ≥30 reads per nucleotide, our major quality criterion, was 99% and in total ∼21,000 variants were identified. Confirmation with SS was performed for 168 variants (155 substitutions, 13 indels). All were confirmed, including a deletion of 18 bp and an insertion of 6 bp. The reproducibility was nearly 100%. We demonstrate that targeted NGS of a disease-specific subset of genes is equal to the quality of SS and it can therefore be reliably implemented as a stand-alone diagnostic test.
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Cites
Targeted capture and massively parallel sequencing of 12 human exomes
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Exome sequencing identifies the cause of a mendelian disorder
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Diagnostic exome sequencing in persons with severe intellectual disability
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Truncations of titin causing dilated cardiomyopathy
Herman, D. S., Lam, L., Taylor, M. R. G., Wang, L., Teekakirikul, P., Christodoulou, D., Conner, L., DePalma, S. R., McDonough, B., Sparks, E., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1110186 · Cited by 1,485
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Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., et al. (2010) · Nature Genetics · doi:10.1038/ng.581 · Cited by 489
Assuring the quality of next-generation sequencing in clinical laboratory practice
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Disease gene identification strategies for exome sequencing
Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.258 · Cited by 460
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Cited by
Towbin, J. A., McKenna, W. J., Abrams, D. J., Ackerman, M. J., Calkins, H., Darrieux, F. C. C., Daubert, J. P., de Chillou, C., DePasquale, E. C., Desai, M. Y., et al. (2019) · Heart Rhythm · doi:10.1016/j.hrthm.2019.05.007 · Cited by 846
Self-citationXue, Y., Ankala, A., Wilcox, W. R., & Hegde, M. R. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.122 · Cited by 349
Phasing amplicon sequencing on Illumina Miseq for robust environmental microbial community analysis
Wu, L., Wen, C., Qin, Y., Yin, H., Tu, Q., Van Nostrand, J. D., Yuan, T., Yuan, M., Deng, Y., & Zhou, J. (2015) · BMC Microbiology · doi:10.1186/s12866-015-0450-4 · Cited by 290
Kobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., Ohashi, T., Shiraishi, H., Nakashima, M., Saitsu, H., et al. (2016) · Brain and Development · doi:10.1016/j.braindev.2015.09.011 · Cited by 84
Advances in technologies for screening and diagnosis of hemoglobinopathies
Traeger-Synodinos, J., & Harteveld, C. L. (2014) · Biomarkers in Medicine · doi:10.2217/bmm.13.103 · Cited by 53
Metadata
- Authors
- Sikkema-Raddatz, B., Johansson, L. F., de Boer, E. N., Almomani, R., Boven, L. G., van den Berg, M. P., van Spaendonck-Zwarts, K. Y., van Tintelen, J. P., Sijmons, R. H., Jongbloed, J. D. H., & Sinke, R. J.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2013-04-29
- Volume
- 34
- Issue
- 7
- Pages
- 1035-1042
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2142453541
- Cited by
- 300
- References
- 22
- FWCI
- 25.09
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Sikkema-Raddatz, B., Johansson, L. F., de Boer, E. N., Almomani, R., Boven, L. G., van den Berg, M. P., van Spaendonck-Zwarts, K. Y., van Tintelen, J. P., Sijmons, R. H., Jongbloed, J. D. H., & Sinke, R. J. (2013). Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics. Human Mutation. https://doi.org/10.1002/humu.22332
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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