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MLPAinter 用于 MLPA 解读:多重连接依赖性探针扩增分析、可视化和数据管理的综合方法。

MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification.

机构信息

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

BMC Bioinformatics. 2010 Jan 29;11:67. doi: 10.1186/1471-2105-11-67.

DOI:10.1186/1471-2105-11-67
PMID:20113482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3098110/
Abstract

BACKGROUND

Multiplex Ligation-Dependent Probe Amplification (MLPA) is an application that can be used for the detection of multiple chromosomal aberrations in a single experiment. In one reaction, up to 50 different genomic sequences can be analysed. For a reliable work-flow, tools are needed for administrative support, data management, normalisation, visualisation, reporting and interpretation.

RESULTS

Here, we developed a data management system, MLPAInter for MLPA interpretation, that is windows executable and has a stand-alone database for monitoring and interpreting the MLPA data stream that is generated from the experimental setup to analysis, quality control and visualisation. A statistical approach is applied for the normalisation and analysis of large series of MLPA traces, making use of multiple control samples and internal controls.

CONCLUSIONS

MLPAinter visualises MLPA data in plots with information about sample replicates, normalisation settings, and sample characteristics. This integrated approach helps in the automated handling of large series of MLPA data and guarantees a quick and streamlined dataflow from the beginning of an experiment to an authorised report.

摘要

背景

多重连接依赖性探针扩增(MLPA)是一种应用,可以在单个实验中检测多个染色体异常。在一个反应中,可以分析多达 50 个不同的基因组序列。为了实现可靠的工作流程,需要工具来提供行政支持、数据管理、标准化、可视化、报告和解释。

结果

在这里,我们开发了一个数据管理系统 MLPAInter,用于 MLPA 解释,它是一个 Windows 可执行文件,具有独立的数据库,用于监测和解释从实验设置到分析、质量控制和可视化生成的 MLPA 数据流。该系统应用了一种统计方法来对大量 MLPA 痕迹进行标准化和分析,利用多个对照样本和内部对照。

结论

MLPAinter 以图形方式显示 MLPA 数据,并提供有关样本重复、标准化设置和样本特征的信息。这种集成的方法有助于自动化处理大量的 MLPA 数据,并保证从实验开始到授权报告的快速、流畅的数据流程。

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2
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3
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4
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5
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