Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel

两种全基因组扩增方法可实现 2320-SNP 连锁面板的准确基因分型

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作者:David L Barker, Mark S T Hansen, A Fawad Faruqi, Diane Giannola, Orlando R Irsula, Roger S Lasken, Martin Latterich, Vladimir Makarov, Arnold Oliphant, Jonathon H Pinter, Richard Shen, Irina Sleptsova, William Ziehler, Eric Lai

Abstract

Comprehensive genome scans involving many thousands of SNP assays will require significant amounts of genomic DNA from each sample. We report two successful methods for amplifying whole-genomic DNA prior to SNP analysis, multiple displacement amplification, and OmniPlex technology. We determined the coverage of amplification by analyzing a SNP linkage marker set that contained 2320 SNP markers spread across the genome at an average distance of 2.5 cM. We observed a concordance of >99.8% in genotyping results from genomic DNA and amplified DNA, strongly indicating the ability of both methods used to amplify genomic DNA in a highly representative manner. Furthermore, we were able to achieve a SNP call rate of >98% in both genomic and amplified DNA. The combination of whole-genome amplification and comprehensive SNP linkage analysis offers new opportunities for genetic analysis in clinical trials, disease association studies, and archiving of DNA samples.

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