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

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

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  • 1Statistical Genetics Analysis Division, StaGen Co., Ltd, Tokyo, Japan. sugaya@stagen.co.jp


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.

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