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

Yuki Sugaya*, Yasuaki Akazawa, Akira Saito, Shigeo Kamitsuji

*この研究の対応する著者

    研究成果: Article査読

    3 被引用数 (Scopus)

    抄録

    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.

    本文言語English
    ページ(範囲)676-678
    ページ数3
    ジャーナルJournal of Human Genetics
    57
    10
    DOI
    出版ステータスPublished - 2012 10月

    ASJC Scopus subject areas

    • 遺伝学(臨床)
    • 遺伝学

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