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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.