Literature DB >> 22786579

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

Yuki Sugaya1, Yasuaki Akazawa, Akira Saito, Shigeo Kamitsuji.   

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.

Mesh:

Year:  2012        PMID: 22786579     DOI: 10.1038/jhg.2012.81

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  2 in total

Review 1.  Next-generation sequencing in understanding complex neurological disease.

Authors:  Adam E Handel; Giulio Disanto; Sreeram V Ramagopalan
Journal:  Expert Rev Neurother       Date:  2013-02       Impact factor: 4.618

2.  Virmid: accurate detection of somatic mutations with sample impurity inference.

Authors:  Sangwoo Kim; Kyowon Jeong; Kunal Bhutani; Jeong Lee; Anand Patel; Eric Scott; Hojung Nam; Hayan Lee; Joseph G Gleeson; Vineet Bafna
Journal:  Genome Biol       Date:  2013-08-29       Impact factor: 13.583

  2 in total

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