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    VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

    Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both for diagnostics and research purposes. Due to very rapid technological ...

    F. Musacchia, A. Ciolfi, M. Mutarelli, A. Bruselles, R. Castello… in BMC Bioinformatics (2018)

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