Estimation of allele frequency and association mapping using next-generation sequencing data

Su Yeon Kim, Kirk E Lohmueller, Anders Albrechtsen, Yingrui Li, Thorfinn Korneliussen, Geng Tian, Niels Grarup, Tao Jiang, Gitte Andersen, Daniel Rinse Witte, Torben Jorgensen, Torben Hansen, Oluf Pedersen, Jun Wang, Rasmus Nielsen

    145 Citationer (Scopus)

    Abstract

    Estimation of allele frequency is of fundamental importance in population genetic analyses and in association mapping. In most studies using next-generation sequencing, a cost effective approach is to use medium or low-coverage data (e.g., <15X). However, SNP calling and allele frequency estimation in such studies is associated with substantial statistical uncertainty because of varying coverage and high error rates.
    OriginalsprogEngelsk
    TidsskriftB M C Bioinformatics
    Vol/bind12
    Sider (fra-til)231
    ISSN1471-2105
    DOI
    StatusUdgivet - 2011

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