The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Clinical sequencing: is WGS the better WES?
Open accessAbstract
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. However, capturing has limitations in sufficiently covering coding exons, especially GC-rich regions. We compared whole exome sequencing (WES) with the most recent PCR-free whole genome sequencing (WGS), showing that only the latter is able to provide hitherto unprecedented complete coverage of the coding region of the genome. Thus, from a clinical/technical point of view, WGS is the better WES so that capturing is no longer necessary for the most comprehensive genomic testing of Mendelian disorders.
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Cites
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,541
The Database of Genomic Variants: a curated collection of structural variation in the human genome
MacDonald, J. R., Ziman, R., Yuen, R. K. C., Feuk, L., & Scherer, S. W. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt958 · Cited by 1,342
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Belkadi, A., Bolze, A., Itan, Y., Cobat, A., Vincent, Q. B., Antipenko, A., Shang, L., Boisson, B., Casanova, J.-L., & Abel, L. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1418631112 · Cited by 638
Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3010076 · Cited by 528
Fast Computation and Applications of Genome Mappability
Derrien, T., Estellé, J., Marco Sola, S., Knowles, D. G., Raineri, E., Guigó, R., & Ribeca, P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030377 · Cited by 487
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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C., Vives, L., Vu, T. H., Shafer, N., Bernier, R., Ferrero, G. B., Silengo, M., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002334 · Cited by 324
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Cited by
Detection of long repeat expansions from PCR-free whole-genome sequence data
Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research · doi:10.1101/gr.225672.117 · Cited by 388
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01026-w · Cited by 359
Next-Generation Sequencing and Emerging Technologies
Kumar, K. R., Cowley, M. J., & Davis, R. L. (2019) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-0039-1688446 · Cited by 292
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Bogaert, D. J. A., Dullaers, M., Lambrecht, B. N., Vermaelen, K. Y., De Baere, E., & Haerynck, F. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103690 · Cited by 279
Lightbody, G., Haberland, V., Browne, F., Taggart, L., Zheng, H., Parkes, E., & Blayney, J. K. (2019) · Briefings in Bioinformatics · doi:10.1093/bib/bby051 · Cited by 173
Metadata
- Authors
- Meienberg, J., Bruggmann, R., Oexle, K., & Matyas, G.
- Venue
- Human Genetics
- Published
- 2016-01-07
- Volume
- 135
- Issue
- 3
- Pages
- 359-362
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2231968663
- Cited by
- 361
- References
- 15
- FWCI
- 24.71
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Meienberg, J., Bruggmann, R., Oexle, K., & Matyas, G. (2016). Clinical sequencing: is WGS the better WES? Human Genetics. https://doi.org/10.1007/s00439-015-1631-9
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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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