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Long reads: their purpose and place
Open accessAbstract
In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing, the cost of sequencing using long-read technologies has materially dropped whilst the instrument throughput continues to increase. Together these changes present the prospect of sequencing large numbers of individuals with the aim of fully characterizing genomes at high resolution. In this article, we will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful and how they are being used. We will highlight the recent developments in this field, and the applications and potential of these technologies in medical research, and clinical diagnostics and therapeutics.
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The zebrafish reference genome sequence and its relationship to the human genome.
Howe, K., Clark, M. D., Torroja, C. F., Torrance, J., Berthelot, C., Muffato, M., Collins, J. E., Humphray, S., McLaren, K., Matthews, L., et al. (2013) · Nature · doi:10.1038/nature12111 · Cited by 5,100
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
Chin, C.-S., Alexander, D. H., Marks, P., Klammer, A. A., Drake, J., Heiner, C., Clum, A., Copeland, A., Huddleston, J., Eichler, E. E., et al. (2013) · Nature Methods · doi:10.1038/nmeth.2474 · Cited by 4,029
Real-Time DNA Sequencing from Single Polymerase Molecules
Eid, J., Fehr, A., Gray, J., Luong, K., Lyle, J., Otto, G., Peluso, P., Rank, D., Baybayan, P., Bettman, B., et al. (2009) · Science · doi:10.1126/science.1162986 · Cited by 3,732
De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds
Dudchenko, O., Batra, S. S., Omer, A. D., Nyquist, S. K., Hoeger, M., Durand, N. C., Shamim, M. S., Machol, I., Lander, E. S., Aiden, A. P., et al. (2017) · Science · doi:10.1126/science.aal3327 · Cited by 2,784
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase
Sanger, F., & Coulson, A. R. (1975) · Journal of Molecular Biology · doi:10.1016/0022-2836(75)90213-2 · Cited by 2,709
Phased diploid genome assembly with single-molecule real-time sequencing
Chin, C.-S., Peluso, P., Sedlazeck, F. J., Nattestad, M., Concepcion, G. T., Clum, A., Dunn, C., O'Malley, R., Figueroa-Balderas, R., Morales-Cruz, A., et al. (2016) · Nature Methods · doi:10.1038/nmeth.4035 · Cited by 1,904
Nanopore sequencing and assembly of a human genome with ultra-long reads
Jain, M., Koren, S., Miga, K. H., Quick, J., Rand, A. C., Sasani, T. A., Tyson, J. R., Beggs, A. D., Dilthey, A. T., Fiddes, I. T., et al. (2018) · Nature Biotechnology · doi:10.1038/nbt.4060 · Cited by 1,892
Direct detection of DNA methylation during single-molecule, real-time sequencing
Flusberg, B. A., Webster, D. R., Lee, J. H., Travers, K. J., Olivares, E. C., Clark, T. A., Korlach, J., & Turner, S. W. (2010) · Nature Methods · doi:10.1038/nmeth.1459 · Cited by 1,460
Zero-Mode Waveguides for Single-Molecule Analysis at High Concentrations
Levene, M. J., Korlach, J., Turner, S. W., Foquet, M., Craighead, H. G., & Webb, W. W. (2003) · Science · doi:10.1126/science.1079700 · Cited by 1,378
Three decades of nanopore sequencing
Deamer, D., Akeson, M., & Branton, D. (2016) · Nature Biotechnology · doi:10.1038/nbt.3423 · Cited by 1,292
Cited by
Opportunities and challenges in long-read sequencing data analysis
Amarasinghe, S. L., Su, S., Dong, X., Zappia, L., Ritchie, M. E., & Gouil, Q. (2020) · Genome Biology · doi:10.1186/s13059-020-1935-5 · Cited by 2,530
Long-read human genome sequencing and its applications
Logsdon, G. A., Vollger, M. R., & Eichler, E. E. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0236-x · Cited by 1,235
Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00785-3 · Cited by 438
Profiling the genome-wide landscape of tandem repeat expansions
(2019) · doi:10.1093/nar/gkz501 · Cited by 270
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
Wheway, G., Genomics England Research Consortium, & Mitchison, H. M. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00127 · Cited by 99
Metadata
- Authors
- Pollard, M. O., Gurdasani, D., Mentzer, A. J., Porter, T., & Sandhu, M. S.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-05-14
- Volume
- 27
- Issue
- R2
- Pages
- R234-R241
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2807773783
- Cited by
- 363
- References
- 50
- FWCI
- 12.79
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Pollard, M. O., Gurdasani, D., Mentzer, A. J., Porter, T., & Sandhu, M. S. (2018). Long reads: their purpose and place. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddy177
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