Single nucleotide polymorphism genotyping: biochemistry, protocol, cost and throughput
- 1 January 2003
- journal article
- review article
- Published by Springer Nature in The Pharmacogenomics Journal
- Vol. 3 (2) , 77-96
- https://doi.org/10.1038/sj.tpj.6500167
Abstract
The large number of single nucleotide polymorphism (SNP) markers available in the public databases makes studies of association and fine mapping of disease loci very practical. To provide information for researchers who do not follow SNP genotyping technologies but need to use them for their research, we review here recent developments in the fields. We start with a general description of SNP typing protocols and follow this with a summary of current methods for each step of the protocol and point out the unique features and weaknesses of these techniques as well as comparing the cost and throughput structures of the technologies. Finally, we describe some popular techniques and the applications that are suitable for these techniques.Keywords
This publication has 136 references indexed in Scilit:
- Large‐scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman®) assayHuman Mutation, 2002
- Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibriumGenetic Epidemiology, 2001
- A high-throughput SNP typing system for genome-wide association studiesJournal of Human Genetics, 2001
- High-Performance Multiplex SNP Analysis of Three Hemochromatosis-Related Mutations With Capillary Array Electrophoresis MicroplatesGenome Research, 2001
- Fluorescence Polarization in Homogeneous Nucleic Acid Analysis II: 5′-Nuclease AssayGenome Research, 2001
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsNature, 2001
- Comparison Study for Identifying Promoter Allelic Polymorphism in Interleukin 10 and Tumor Necrosis Factor α GenesDiagnostic Molecular Pathology, 2000
- A Multi-Site Study for Detection of the Factor V (Leiden) Mutation from Genomic DNA Using a Homogeneous Invader Microtiter Plate Fluorescence Resonance Energy Transfer (FRET) AssayThe Journal of Molecular Diagnostics, 2000
- Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detectionGenetic Analysis: Biomolecular Engineering, 1999
- Allelic discrimination using fluorogenic probes and the 5′ nuclease assayGenetic Analysis: Biomolecular Engineering, 1999