Large‐scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman ® ) assay | Zendy

Nordfors Louise | Zendy; Jansson Mårten | Zendy; Sandberg Gunnar | Zendy; Lavebratt Catharina | Zendy; Sengul Selim | Zendy; Schalling Martin | Zendy; Arner Peter | Zendy

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Large‐scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman ® ) assay

Author(s) -

Nordfors Louise,

Jansson Mårten,

Sandberg Gunnar,

Lavebratt Catharina,

Sengul Selim,

Schalling Martin,

Arner Peter

Publication year - 2002

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.10062

Subject(s) - genotyping , pyrosequencing , taqman , biology , single nucleotide polymorphism , snp genotyping , genotype , genetics , computational biology , nuclease , polymerase chain reaction , gene

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.

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