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

Yuki Sugaya, Yasuaki Akazawa, Akira Saito, Shigeo Kamitsuji

    Research output: Contribution to journalArticle

    3 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)676-678
    Number of pages3
    JournalJournal of Human Genetics
    Volume57
    Issue number10
    DOIs
    Publication statusPublished - 2012 Oct

    Keywords

    • next-generation sequencing
    • rare variant detection
    • study design

    ASJC Scopus subject areas

    • Genetics(clinical)
    • Genetics

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