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  1. Article

    Open Access

    PureCN: copy number calling and SNV classification using targeted short read sequencing

    Matched sequencing of both tumor and normal tissue is routinely used to classify variants of uncertain significance (VUS) into somatic vs. germline. However, assays used in molecular diagnostics focus on known...

    Markus Riester, Angad P. Singh, A. Rose Brannon… in Source Code for Biology and Medicine (2016)

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