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NDesign:用于检测下一代测序数据中罕见变异的研究设计软件。

NDesign: software for study design for the detection of rare variants from next-generation sequencing data.

机构信息

Statistical Genetics Analysis Division, StaGen Co., Ltd, Tokyo, Japan.

出版信息

J Hum Genet. 2012 Oct;57(10):676-8. doi: 10.1038/jhg.2012.81. Epub 2012 Jul 12.

Abstract

We developed a software program, NDesign, for the design of a study intended for detecting rare variants from next-generation sequencing (NGS) data. In this study design, the optimal depth of coverage and the average depth of coverage are first evaluated, and then the ability of the designed experiment to obtain a desired power is determined. NDesign has been developed to calculate both these depths, as well as to evaluate the power of the designed experiment. It has a simple implementation in the JavaScript language, and is expected to enable researchers to design optimal NGS studies.

摘要

我们开发了一个名为 NDesign 的软件程序,用于设计旨在从下一代测序(NGS)数据中检测稀有变体的研究。在这项研究设计中,首先评估最佳覆盖深度和平均覆盖深度,然后确定设计实验获得所需功效的能力。NDesign 旨在计算这两个深度,以及评估设计实验的功效。它在 JavaScript 语言中有一个简单的实现,预计将使研究人员能够设计最佳的 NGS 研究。

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