title: High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays.
abstract: Current microarray technology allows researchers to genotype a large number of SNPs with relatively small amounts of DNA. Nevertheless, researchers and clinicians still frequently face the problem of acquiring enough high-quality DNA for analysis. Whole-genome amplification (WGA) methods offer a solution for this problem, and earlier studies have shown that WGA samples perform reasonably well in small-scale genetic analyses (e.g. Affymetrix 10K array). To determine the performance of WGA products on a large-scale genotyping array, we compared the Affymetrix 250K array genotyping results of genomic DNA and their WGA products from four individuals. Our results indicate that WGA product performs well on the 250K array compared to genomic DNA, especially when using the BRLMM calling algorithm. WGA samples have high call rates (97.5% on average, compared to 99.4% for genomic DNA) and excellent concordance rates with their corresponding genomic DNA samples (98.7% on average). In addition, no apparent systematic genomic amplification bias can be detected. This study demonstrates that, although there is a slight decrease in the total call rates, WGA methods provide a reliable approach for increasing the amount of DNA samples for use with a common SNP genotyping array.
authors.affiliation: Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT, 84112, USA.
authors.forename: Jinchuan
authors.initials: J
authors.lastname: Xing
authors.forename: W Scott
authors.initials: WS
authors.lastname: Watkins
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Zhang
authors.forename: David J
authors.initials: DJ
authors.lastname: Witherspoon
authors.forename: Lynn B
authors.initials: LB
authors.lastname: Jorde
mesh_terms: D015894:Genome, Human; D005838:Genotype; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D018401:Sample Size; D017422:Sequence Analysis, DNA / Q000379:methods*
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