Methods

Two Methods of Whole-Genome Amplification Enable Accurate Genotyping Across a 2320-SNP Linkage Panel

    • 1 Genetics Research, GlaxoSmithKline, Research Triangle Park, North Carolina 27709, USA
    • 2 Illumina, Inc., San Diego, California 92121, USA
    • 3 Molecular Staging, Inc., New Haven, Connecticut 06511, USA
    • 4 Rubicon Genomics, Ann Arbor, Michigan 48108, USA
Published May 3, 2004. Vol 14 Issue 5, pp. 901-907. https://doi.org/10.1101/gr.1949704
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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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