The DOI matches its Crossref record; 119 of the 119 references it cites were found in a registry or an index.
SNP Genotyping: Technologies and Biomedical Applications
Abstract
Single nucleotide polymorphisms (SNPs) are the most frequently occurring genetic variation in the human genome, with the total number of SNPs reported in public SNP databases currently exceeding 9 million. SNPs are important markers in many studies that link sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular bases of diseases. For this reason, over the past several years a great deal of effort has been devoted to developing accurate, rapid, and cost-effective technologies for SNP analysis, yielding a large number of distinct approaches. This article presents a review of SNP genotyping techniques and examines their principles of genotype determination in terms of allele differentiation strategies and detection methods. Further, several current biomedical applications of SNP genotyping are discussed.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
Botstein, D., White, R. L., Skolnick, M. H., & Davis, R. W. (1980) · Europe PMC (PubMed Central) · Cited by 8,327
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons
Karas, M., & Hillenkamp, F. (1988) · Analytical Chemistry · doi:10.1021/ac00171a028 · Cited by 5,637
Orita, M., Suzuki, Y., Sekiya, T., & Hayashi, K. (1989) · Genomics · doi:10.1016/0888-7543(89)90129-8 · Cited by 3,434
Protein and polymer analyses up to m/z 100 000 by laser ionization time‐of‐flight mass spectrometry
Tanaka, K., Waki, H., Ido, Y., Akita, S., Yoshida, Y., Yoshida, T., & Matsuo, T. (1988) · Rapid Communications in Mass Spectrometry · doi:10.1002/rcm.1290020802 · Cited by 3,175
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977
Holland, P. M., Abramson, R. D., Watson, R., & Gelfand, D. H. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.16.7276 · Cited by 2,693
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
Cited by
Population genomics of marine fishes: identifying adaptive variation in space and time
NIELSEN, E. E., HEMMER‐HANSEN, J., LARSEN, P. F., & BEKKEVOLD, D. (2009) · Molecular Ecology · doi:10.1111/j.1365-294x.2009.04272.x · Cited by 331
SNP Discovery through Next-Generation Sequencing and Its Applications
Kumar, S., Banks, T. W., & Cloutier, S. (2012) · International Journal of Plant Genomics · doi:10.1155/2012/831460 · Cited by 309
Genetic susceptibility to periodontitis
Laine, M. L., Crielaard, W., & Loos, B. G. (2012) · Periodontology 2000 · doi:10.1111/j.1600-0757.2011.00415.x · Cited by 271
Dobosy, J. R., Rose, S. D., Beltz, K. R., Rupp, S. M., Powers, K. M., Behlke, M. A., & Walder, J. A. (2011) · BMC Biotechnology · doi:10.1186/1472-6750-11-80 · Cited by 184
Molecular Biomarkers for Gestational Diabetes Mellitus and Postpartum Diabetes
Lu, W., & Hu, C. (2022) · Chinese Medical Journal · doi:10.1097/cm9.0000000000002160 · Cited by 52
Metadata
- Authors
- Kim, S., & Misra, A.
- Venue
- Annual Review of Biomedical Engineering
- Publisher
- Annual Reviews
- Published
- 2007-08-15
- Volume
- 9
- Issue
- 1
- Pages
- 289-320
- ISSN
- 1523-9829 (ISSN-L)
- 1545-4274
- OpenAlex
- W1980066896
- Cited by
- 622
- References
- 119
- FWCI
- 2.99
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: SNP Genotyping: Technologies and Biomedical Applications. https://app.cochat.ai/papers/10.1146/annurev.bioeng.9.060906.152037
- The paper
- Kim, S., & Misra, A. (2007). SNP Genotyping: Technologies and Biomedical Applications. Annual Review of Biomedical Engineering. https://doi.org/10.1146/annurev.bioeng.9.060906.152037
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
