TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs
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DOI: 10.1186/s13059-022-02631-z
Abstract: Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering and automated classification, based on an… read more here.
Keywords: based prioritisation; annotation based; functional annotation; pathogenic cnvs ... See more keywords