The DOI matches its Crossref record; 166 of the 166 references it cites were found in a registry or an index.
Long-read human genome sequencing and its applications
Open accessAbstract
Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously inaccessible structural variants and generate some of the first telomere-to-telomere assemblies of whole chromosomes. Long-read sequencing technologies will soon permit the routine assembly of diploid genomes, which will revolutionize genomics by revealing the full spectrum of human genetic variation, resolving some of the missing heritability and leading to the discovery of novel mechanisms of disease. Long-read sequencing is becoming more accessible and more accurate. In this Review, Logsdon et al. discuss the currently available platforms, how the technologies are being applied to assemble and phase human genomes, and their impact on improving our understanding of human genetic variation.
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Cited by
The complete sequence of a human genome
Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science · doi:10.1126/science.abj6987 · Cited by 3,136
Self-citationNext-Generation Sequencing Technology: Current Trends and Advancements
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Next-generation sequencing technologies: An overview
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The Human Pangenome Project: a global resource to map genomic diversity
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Metadata
- Authors
- Logsdon, G. A., Vollger, M. R., & Eichler, E. E.
- Venue
- Nature Reviews Genetics
- Published
- 2020-06-05
- Volume
- 21
- Issue
- 10
- Pages
- 597-614
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W3033870872
- Cited by
- 1,235
- References
- 166
- FWCI
- 10.75
- Type
- journal article
- Language
- en
- Open access
- green
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