The DOI matches its Crossref record; 72 of the 72 references it cites were found in a registry or an index.
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Open accessAbstract
Massively parallel sequencing has reduced the cost and increased the throughput of genomic sequencing by more than three orders of magnitude, and it seems likely that costs will fall and throughput improve even more in the next few years. Clinical use of massively parallel sequencing will provide a way to identify the cause of many diseases of unknown etiology through simultaneous screening of thousands of loci for pathogenic mutations and by sequencing biological specimens for the genomic signatures of novel infectious agents. In addition to providing these entirely new diagnostic capabilities, massively parallel sequencing may also replace arrays and Sanger sequencing in clinical applications where they are currently being used. Routine clinical use of massively parallel sequencing will require higher accuracy, better ways to select genomic subsets of interest, and improvements in the functionality, speed, and ease of use of data analysis software. In addition, substantial enhancements in laboratory computer infrastructure, data storage, and data transfer capacity will be needed to handle the extremely large data sets produced. Clinicians and laboratory personnel will require training to use the sequence data effectively, and appropriate methods will need to be developed to deal with the incidental discovery of pathogenic mutations and variants of uncertain clinical significance. Massively parallel sequencing has the potential to transform the practice of medical genetics and related fields, but the vast amount of personal genomic data produced will increase the responsibility of geneticists to ensure that the information obtained is used in a medically and socially responsible manner.
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Cites
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Cited by
Next-generation sequencing technologies: An overview
Hu, T., Chitnis, N., Monos, D., & Dinh, A. (2021) · Human Immunology · doi:10.1016/j.humimm.2021.02.012 · Cited by 949
The Genetics of Alzheimer's Disease
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Clinical assessment incorporating a personal genome
Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., Dudley, J. T., Ormond, K. E., Pavlovic, A., Morgan, A. A., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60452-7 · Cited by 674
The impact of next-generation sequencing on genomics
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“NGS technologies have increased the speed and throughput capacities of DNA sequencing and, as a result, dramatically reduced overall sequencing costs (Mardis, 2006, 2009; Schuster, 2008; Shendure and Ji, 2008; Ng et al., 2009a; Tucker et al., 2009; Metzker, 2010).”
BackgroundTranscriptional regulation of photoreceptor development and homeostasis in the mammalian retina
Swaroop, A., Kim, D., & Forrest, D. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2880 · Cited by 560
Metadata
- Authors
- Tucker, T., Marra, M., & Friedman, J. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2009-08
- Volume
- 85
- Issue
- 2
- Pages
- 142-154
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2098207011
- Cited by
- 386
- References
- 72
- FWCI
- 21.21
- Type
- journal article
- Language
- en
- Open access
- bronze
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