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Updated: Aug 24, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel
David L Barker1, Mark S T Hansen, A Fawad Faruqi
1Illumina, Inc., San Diego, California 92121, USA.
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.

