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Improved data analysis for the MinION nanopore sequencer
Open accessAbstract
Speed, single-base sensitivity and long read lengths make nanopores a promising technology for high-throughput sequencing. We evaluated and optimized the performance of the MinION nanopore sequencer using M13 genomic DNA and used expectation maximization to obtain robust maximum-likelihood estimates for insertion, deletion and substitution error rates (4.9%, 7.8% and 5.1%, respectively). Over 99% of high-quality 2D MinION reads mapped to the reference at a mean identity of 85%. We present a single-nucleotide-variant detection tool that uses maximum-likelihood parameter estimates and marginalization over many possible read alignments to achieve precision and recall of up to 99%. By pairing our high-confidence alignment strategy with long MinION reads, we resolved the copy number for a cancer-testis gene family (CT47) within an unresolved region of human chromosome Xq24.
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“At launch, the MinION read length was approximately 6–8 kb (Jain et al., 2015; Loman and Watson, 2015); however, Urban et al. (2015) published a lab protocol which could improve the MinION reads length producing many reads even longer than 100 kb.”
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Metadata
- Authors
- Jain, M., Fiddes, I. T., Miga, K. H., Olsen, H. E., Paten, B., & Akeson, M.
- Venue
- Nature Methods
- Published
- 2015-02-16
- Volume
- 12
- Issue
- 4
- Pages
- 351-356
- ISSN
- 1548-7091 (ISSN-L)
- 1548-7105
- OpenAlex
- W2007772656
- Cited by
- 639
- References
- 3
- FWCI
- 37.57
- Type
- journal article
- Language
- en
- Open access
- green
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