The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification
Open accessAbstract
When is a mutation a true genetic variant?: Large-scale sequencing studies have set out to determine the low-frequency pathogenic genetic variants in individuals and populations. However, Chen et al. demonstrate that many so-called low-frequency genetic variants in large public databases may be due to DNA damage. They scored libraries sequenced with and without a DNA damage–repairing enzymatic mix to assess the proportion of true rare variants. It remains to be seen how best to repair DNA before sequencing to provide more accurate assessments of mutation. Science , this issue p. 752
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Cites
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Cited by
Gandara, D. R., Paul, S. M., Kowanetz, M., Schleifman, E., Zou, W., Li, Y., Rittmeyer, A., Fehrenbacher, L., Otto, G., Malboeuf, C., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0134-3 · Cited by 1,157
Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI)
Chen, C., Xing, D., Tan, L., Li, H., Zhou, G., Huang, L., & Xie, X. S. (2017) · Science · doi:10.1126/science.aak9787 · Cited by 391
Acuna-Hidalgo, R., Sengul, H., Steehouwer, M., van de Vorst, M., Vermeulen, S. H., Kiemeney, L. A. L. M., Veltman, J. A., Gilissen, C., & Hoischen, A. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.05.013 · Cited by 264
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
Maher, G. J., Ralph, H. K., Ding, Z., Koelling, N., Mlcochova, H., Giannoulatou, E., Dhami, P., Paul, D. S., Stricker, S. H., Beck, S., et al. (2018) · Genome Research · doi:10.1101/gr.239186.118 · Cited by 85
The York Gospels: a 1000-year biological palimpsest
Teasdale, M. D., Fiddyment, S., Vnouček, J., Mattiangeli, V., Speller, C., Binois, A., Carver, M., Dand, C., Newfield, T. P., Webb, C. C., et al. (2017) · Royal Society Open Science · doi:10.1098/rsos.170988 · Cited by 75
Metadata
- Authors
- Chen, L., Liu, P., Evans, T. C., & Ettwiller, L. M.
- Venue
- Science
- Published
- 2017-02-17
- Volume
- 355
- Issue
- 6326
- Pages
- 752-756
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2952746993
- Cited by
- 253
- References
- 18
- FWCI
- 13.98
- Type
- journal article
- Language
- en
- Open access
- green
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