The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Targeted nanopore sequencing with Cas9-guided adapter ligation
Open accessAbstract
Despite recent improvements in sequencing methods, there remains a need for assays that provide high sequencing depth and comprehensive variant detection. Current methods1–4 are limited by the loss of native modifications, short read length, high input requirements, low yield or long protocols. In the present study, we describe nanopore Cas9-targeted sequencing (nCATS), an enrichment strategy that uses targeted cleavage of chromosomal DNA with Cas9 to ligate adapters for nanopore sequencing. We show that nCATS can simultaneously assess haplotype-resolved single-nucleotide variants, structural variations and CpG methylation. We apply nCATS to four cell lines, to a cell-line-derived xenograft, and to normal and paired tumor/normal primary human breast tissue. Median sequencing coverage was 675× using a MinION flow cell and 34× using the smaller Flongle flow cell. The nCATS sequencing requires only ~3 μg of genomic DNA and can target a large number of loci in a single reaction. The method will facilitate the use of long-read sequencing in research and in the clinic. Point mutations, structural variants and DNA methylation at target loci are assessed by nanopore sequencing.
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Cited by
Kaminski, M. M., Abudayyeh, O. O., Gootenberg, J. S., Zhang, F., & Collins, J. J. (2021) · Nature Biomedical Engineering · doi:10.1038/s41551-021-00760-7 · Cited by 1,259
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Nonlinear control of transcription through enhancer–promoter interactions
Zuin, J., Roth, G., Zhan, Y., Cramard, J., Redolfi, J., Piskadlo, E., Mach, P., Kryzhanovska, M., Tihanyi, G., Kohler, H., et al. (2022) · Nature · doi:10.1038/s41586-022-04570-y · Cited by 415
Towards population-scale long-read sequencing
De Coster, W., Weissensteiner, M. H., & Sedlazeck, F. J. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00367-3 · Cited by 323
Self-citationA 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
Metadata
- Authors
- Gilpatrick, T., Lee, I., Graham, J. E., Raimondeau, E., Bowen, R., Heron, A., Downs, B., Sukumar, S., Sedlazeck, F. J., & Timp, W.
- Venue
- Nature Biotechnology
- Published
- 2020-02-10
- Volume
- 38
- Issue
- 4
- Pages
- 433-438
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- OpenAlex
- W3004807164
- Cited by
- 448
- References
- 32
- FWCI
- 19.76
- Type
- journal article
- Language
- en
- Open access
- green
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