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

被引：3
|
作者：
Sugaya, Yuki [1 ]
Akazawa, Yasuaki [2 ]
Saito, Akira
Kamitsuji, Shigeo
机构：
[1] StaGen Co Ltd, Stat Genet Anal Div, Taito Ku, Tokyo 1110051, Japan
[2] Waseda Univ, Dept Elect Engn & Biosci, Sch Adv Sci & Engn, Tokyo, Japan
来源：
JOURNAL OF HUMAN GENETICS | 2012年 / 57卷 / 10期
关键词：
next-generation sequencing; rare variant detection; study design;
D O I：
10.1038/jhg.2012.81
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. Journal of Human Genetics (2012) 57, 676-678; doi:10.1038/jhg.2012.81; published online 12 July 2012
引用
收藏
页码：676 / 678
页数：3
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