The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions
Open accessAbstract
For next-generation sequencing technologies, sufficient base-pair coverage is the foremost requirement for the reliable detection of genomic variants. We investigated whether whole-genome sequencing (WGS) platforms offer improved coverage of coding regions compared with whole-exome sequencing (WES) platforms, and compared single-base coverage for a large set of exome and genome samples. We find that WES platforms have improved considerably in the last years, but at comparable sequencing depth, WGS outperforms WES in terms of covered coding regions. At higher sequencing depth (95x-160x), WES successfully captures 95% of the coding regions with a minimal coverage of 20x, compared with 98% for WGS at 87-fold coverage. Three different assessments of sequence coverage bias showed consistent biases for WES but not for WGS. We found no clear differences for the technologies concerning their ability to achieve complete coverage of 2,759 clinically relevant genes. We show that WES performs comparable to WGS in terms of covered bases if sequenced at two to three times higher coverage. This does, however, go at the cost of substantially more sequencing biases in WES approaches. Our findings will guide laboratories to make an informed decision on which sequencing platform and coverage to choose.
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Cites
BEDTools: a flexible suite of utilities for comparing genomic features
Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212
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
Self-citationWhole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · cited 1×
“The cost of whole-genome sequencing (WGS) is becoming less prohibitive for applying WGS as a clinical test [Hayden, 2014], and pilot studies have already been performed [Lupski et al., 2010; Jiang et al., 2013; Gilissen et al., 2014; Soden et al., 2014].”
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Advancements in Next-Generation Sequencing
Levy, S. E., & Myers, R. M. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022413 · Cited by 599
Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.119 · Cited by 557
Clinical sequencing: is WGS the better WES?
Meienberg, J., Bruggmann, R., Oexle, K., & Matyas, G. (2016) · Human Genetics · doi:10.1007/s00439-015-1631-9 · Cited by 361
Geier, E. G., Bourdenx, M., Storm, N. J., Cochran, J. N., Sirkis, D. W., Hwang, J.-H., Bonham, L. W., Ramos, E. M., Diaz, A., Van Berlo, V., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-018-1925-9 · Cited by 39
Geysens, M., Souche, E., Baroni, M. C., Benoit, V., Beyltjens, T., Bossuyt, W., Bours, V., Crabbé, M., Croes, D., De Smet, M., et al. (2026) · Genome Medicine · doi:10.1186/s13073-026-01771-2
Metadata
- Authors
- Lelieveld, S. H., Spielmann, M., Mundlos, S., Veltman, J. A., & Gilissen, C.
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2015-06-11
- Volume
- 36
- Issue
- 8
- Pages
- 815-822
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1700061603
- Cited by
- 222
- References
- 5
- FWCI
- 13.36
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Lelieveld, S. H., Spielmann, M., Mundlos, S., Veltman, J. A., & Gilissen, C. (2015). Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions. Human Mutation. https://doi.org/10.1002/humu.22813
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