Investigating the utility of combining phi29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping

研究 phi29 全基因组扩增与高度复用的单核苷酸多态性 BeadArray 基因分型相结合的实用性

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作者:Rebecca Pask, Helen E Rance, Bryan J Barratt, Sarah Nutland, Deborah J Smyth, Meera Sebastian, Rebecca C J Twells, Anne Smith, Alex C Lam, Luc J Smink, Neil M Walker, John A Todd

Background

Sustainable DNA resources and reliable high-throughput genotyping

Conclusions

We conclude that the BeadArray technology successfully produces high quality genotyping data from MDA product. The combination of these technologies improves the feasibility and efficiency of mapping common disease susceptibility genes despite limited stocks of gDNA samples.

Results

Eighty-six MDA product and the corresponding 86 gDNA samples were genotyped at 345 SNPs and a concordance rate of 98.8% was achieved. The BeadArray sample exclusion rate, blind to sample type, was 10.5% for MDA product compared to 5.8% for gDNA. Conclusions: We conclude that the BeadArray technology successfully produces high quality genotyping data from MDA product. The combination of these technologies improves the feasibility and efficiency of mapping common disease susceptibility genes despite limited stocks of gDNA samples.

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