The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array
Open accessAbstract
The analysis of single nucleotide polymorphisms (SNPs) is increasingly utilizedto investigate the genetic causes of complex human diseases. Here we present a high-throughput genotyping platform that uses a one-primer assay to genotype over 10,000 SNPs per individual on a single oligonucleotide array. This approach uses restriction digestion to fractionate the genome, followed by amplification of a specific fractionated subset of the genome. The resulting reduction in genome complexity enables allele-specific hybridization to the array. The selection of SNPs was primarily determined by computer-predicted lengths of restriction fragments containing the SNPs, andwas further driven by strict empirical measurements of accuracy, reproducibility, andaverage call rate, which we estimate to be >9.5%, >99.9%, and>95%, respectively. With average heterozygosity of 0.38 andgenome scan resolution of 0.31 cM, the SNP array is a viable alternative to panels of microsatellites (STRs). As a demonstration of the utility of the genotyping platform in whole-genome scans, we have replicated and refined a linkage region on chromosome 2p for chronic mucocutaneous candidiasis and thyroid disease, previously identified using a panel of microsatellite (STR) markers.
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Cites
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Molecular characterization of the tumor microenvironment in breast cancer
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Genetics of global gene expression
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“For the 10K version of their array (17,18), they adopted a partitioning around medoids (PAM)-based algorithm (19).”
MethodMetherell, L. A., Chapple, J. P., Cooray, S., David, A., Becker, C., Rüschendorf, F., Naville, D., Begeot, M., Khoo, B., Nürnberg, P., et al. (2005) · Nature Genetics · doi:10.1038/ng1501 · Cited by 437
Metadata
- Authors
- Matsuzaki, H., Loi, H., Dong, S., Tsai, Y.-Y., Fang, J., Law, J., Di, X., Liu, W.-M., Yang, G., Liu, G., Huang, J., Kennedy, G. C., Ryder, T. B., Marcus, G. A., Walsh, P. S., Shriver, M. D., Puck, J. M., Jones, K. W., & Mei, R.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2004-03
- Volume
- 14
- Issue
- 3
- Pages
- 414-425
- ISSN
- 1088-9051 (ISSN-L)
- OpenAlex
- W2102058141
- Cited by
- 320
- References
- 30
- Type
- posted content
- Language
- en
- Open access
- bronze
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- Matsuzaki, H., Loi, H., Dong, S., Tsai, Y.-Y., Fang, J., Law, J., Di, X., Liu, W.-M., Yang, G., Liu, G., Huang, J., Kennedy, G. C., Ryder, T. B., Marcus, G. A., Walsh, P. S., Shriver, M. D., Puck, J. M., Jones, K. W., & Mei, R. (2004). Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array. Genome Research. https://doi.org/10.1101/gr.2014904
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