SNP Genotyping: Technologies and Biomedical Applications
Top Cited Papers
- 15 August 2007
- journal article
- review article
- Published by Annual Reviews in Annual Review of Biomedical Engineering
- Vol. 9 (1) , 289-320
- https://doi.org/10.1146/annurev.bioeng.9.060906.152037
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.Keywords
This publication has 131 references indexed in Scilit:
- Homozygosity mapping with SNP arrays identifiesTRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)Proceedings of the National Academy of Sciences, 2006
- Disposition of 9-nitrocamptothecin and its 9-aminocamptothecin metabolite in relation to ABC transporter genotypesInvestigational New Drugs, 2006
- Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genesHuman Genetics, 2005
- A haplotype map of the human genomeNature, 2005
- Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetesDiabetologia, 2005
- Haplotypes within genes of β-chemokines in 17q11 are associated with multiple sclerosis: a second phase studyHuman Genetics, 2005
- Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune diseaseNature, 2003
- Slow acetylator phenotype and genotype in HIV‐positive patients with sulphamethoxazole hypersensitivityBritish Journal of Clinical Pharmacology, 2003
- High‐throughput SNP genotypingComparative and Functional Genomics, 2002
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsNature, 2001