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首页> 外文期刊>BMC Genomics >High-throughput single nucleotide polymorphism genotyping using nanofluidic Dynamic Arrays
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High-throughput single nucleotide polymorphism genotyping using nanofluidic Dynamic Arrays

机译：使用纳米流体动态阵列的高通量单核苷酸多态性基因分型

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Background Single nucleotide polymorphisms (SNPs) have emerged as the genetic marker of choice for mapping disease loci and candidate gene association studies, because of their high density and relatively even distribution in the human genomes. There is a need for systems allowing medium multiplexing (ten to hundreds of SNPs) with high throughput, which can efficiently and cost-effectively generate genotypes for a very large sample set (thousands of individuals). Methods that are flexible, fast, accurate and cost-effective are urgently needed. This is also important for those who work on high throughput genotyping in non-model systems where off-the-shelf assays are not available and a flexible platform is needed. Results We demonstrate the use of a nanofluidic Integrated Fluidic Circuit (IFC) - based genotyping system for medium-throughput multiplexing known as the Dynamic Array, by genotyping 994 individual human DNA samples on 47 different SNP assays, using nanoliter volumes of reagents. Call rates of greater than 99.5% and call accuracies of greater than 99.8% were achieved from our study, which demonstrates that this is a formidable genotyping platform. The experimental set up is very simple, with a time-to-result for each sample of about 3 hours. Conclusion Our results demonstrate that the Dynamic Array is an excellent genotyping system for medium-throughput multiplexing (30-300 SNPs), which is simple to use and combines rapid throughput with excellent call rates, high concordance and low cost. The exceptional call rates and call accuracy obtained may be of particular interest to those working on validation and replication of genome- wide- association (GWA) studies.
机译：背景技术单核苷酸多态性（SNP）由于其高密度和在人类基因组中的相对均匀分布而成为定位疾病位点和候选基因关联研究的首选遗传标记。需要一种允许具有高通量的介质多路复用（十至数百个SNP）的系统，该系统可以高效，经济地生成非常大的样本集（成千上万个个体）的基因型。迫切需要灵活，快速，准确和具有成本效益的方法。对于那些在无法进行现成试验且需要灵活平台的非模型系统中进行高通量基因分型的研究人员来说，这一点也很重要。结果我们通过使用纳升体积的试剂在47种不同的SNP分析中对994个单独的人类DNA样本进行基因分型，证明了基于纳流集成电路（IFC）的基因分型系统用于中等通量复用的动态阵列。我们的研究获得了大于99.5％的呼叫率和大于99.8％的呼叫准确性，这表明这是一个强大的基因分型平台。实验设置非常简单，每个样品的生成时间约为3小时。结论我们的结果表明，动态阵列是一种用于中通量多路复用（30-300 SNP）的出色基因分型系统，该系统易于使用，并且结合了快速吞吐率，出色的通话率，高一致性和低成本。那些致力于验证和复制全基因组关联（GWA）研究的人员可能特别感兴趣。

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