Special Research Article
Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman®) assay
Article first published online: 18 MAR 2002
Copyright © 2002 Wiley-Liss, Inc.
Volume 19, Issue 4, pages 395–401, April 2002
How to Cite
Nordfors, L., Jansson, M., Sandberg, G., Lavebratt, C., Sengul, S., Schalling, M. and Arner, P. (2002), Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman®) assay. Hum. Mutat., 19: 395–401. doi: 10.1002/humu.10062
- Issue published online: 18 MAR 2002
- Article first published online: 18 MAR 2002
- Karolinska Hospital
- Karolinska Institutet
- mutation detection;
- 5′nuclease assay
Here we present the first large-scale effort at genotyping using a novel sequencing method, Pyrosequencing™, as a method for genotyping of single nucleotide polymorphisms (SNPs). Pyrosequencing™ genotypes were validated through duplicate analysis of 1,022 genotypes using the PSQ96™ instrument for pyrosequencing and TaqMan® for 5′nuclease assays. Identical results were obtained using both methods. In a small pilot study, a pooling strategy using Pyrosequencing™ was successfully tested. We conclude that Pyrosequencing™ is highly efficient and accurate in the analysis of SNPs and represents a promising solution to high-throughput genotyping of large sample populations. Hum Mutat 19:395–401, 2002. © 2002 Wiley-Liss, Inc.