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Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

机译:自动设计仿生比率测试测定法可快速准确地键入拷贝数变异

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摘要

>Motivation: Genomic copy number variation (CNV) can influence susceptibility to common diseases. High-throughput measurement of gene copy number on large numbers of samples is a challenging, yet critical, stage in confirming observations from sequencing or array Comparative Genome Hybridization (CGH). The paralogue ratio test (PRT) is a simple, cost-effective method of accurately determining copy number by quantifying the amplification ratio between a target and reference amplicon. PRT has been successfully applied to several studies analyzing common CNV. However, its use has not been widespread because of difficulties in assay design.>Results: We present PRTPrimer () software for automated PRT assay design. In addition to stand-alone software, the web site includes a database of pre-designed assays for the human genome at an average spacing of 6 kb and a web interface for custom assay design. Other reference genomes can also be analyzed through local installation of the software. The usefulness of PRTPrimer was tested within known CNV, and showed reproducible quantification. This software and database provide assays that can rapidly genotype CNV, cost-effectively, on a large number of samples and will enable the widespread adoption of PRT.>Availability: PRTPrimer is available in two forms: a Perl script (version 5.14 and higher) that can be run from the command line on Linux systems and as a service on the PRTPrimer web site ().>Contact: >Supplementary Information: are available at Bioinformatics online.
机译:>动机:基因组拷贝数变异(CNV)可以影响对常见疾病的易感性。在确认来自测序或阵列比较基因组杂交(CGH)的观察结果时,高通量测量大量样品上的基因拷贝数是一个充满挑战但至关重要的阶段。旁系同源比测试(PRT)是一种简单,经济高效的方法,可通过量化靶标和参考扩增子之间的扩增率来准确确定拷贝数。 PRT已成功应用于数种分析常见CNV的研究。但是,由于分析设计方面的困难,其使用尚未广泛。>结果:我们介绍了用于自动PRT分析设计的PRTPrimer()软件。除独立软件外,该网站还包括一个平均间隔为6 kb的人类基因组预先设计的测定数据库和一个用于定制测定设计的网络界面。也可以通过本地安装软件来分析其他参考基因组。 PRTPrimer的有用性已在已知的CNV中进行了测试,并显示出可重复的定量。该软件和数据库提供的检测方法可以在大量样品上经济高效地快速对CNV进行基因分型,并可以广泛采用PRT。>可用性: PRTPrimer有两种形式:Perl脚本(版本5.14及更高版本)可以在Linux系统上从命令行运行,也可以作为PRTPrimer网站()上的服务运行。>联系方式: >补充信息:在在线生物信息学上。

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