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Pyrosequencing?: An accurate detection platform for single nucleotide polymorphisms
Abstract
Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this technique for SNP genotyping, SNP discovery, haplotyping, and allelic frequency studies. In addition, we describe new schemes for template preparation and multiplexing as an effort for cost reduction in large-scale studies.
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Cited by
Multiplexed genotyping with sequence-tagged molecular inversion probes
Hardenbol, P., Banér, J., Jain, M., Nilsson, M., Namsaraev, E. A., Karlin-Neumann, G. A., Fakhrai-Rad, H., Ronaghi, M., Willis, T. D., Landegren, U., et al. (2003) · Nature Biotechnology · doi:10.1038/nbt821 · Cited by 559
Self-citationA minimalist barcode can identify a specimen whose DNA is degraded
HAJIBABAEI, M., SMITH, M. A., JANZEN, D. H., RODRIGUEZ, J. J., WHITFIELD, J. B., & HEBERT, P. D. N. (2006) · Molecular Ecology Notes · doi:10.1111/j.1471-8286.2006.01470.x · Cited by 559
The development and impact of 454 sequencing
Rothberg, J. M., & Leamon, J. H. (2008) · Nature Biotechnology · doi:10.1038/nbt1485 · Cited by 527
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Metadata
- Authors
- Fakhrai-Rad, H., Pourmand, N., & Ronaghi, M.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2002-04-10
- Volume
- 19
- Issue
- 5
- Pages
- 479-485
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2007886820
- Cited by
- 246
- References
- 0
- FWCI
- 10.51
- Type
- journal article
- Language
- en
- Open access
- closed
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