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CharGer: clinical Characterization of Germline variants

9 Aug 2018

Abstract excerpt

SUMMARY: CharGer (Characterization of Germline variants) is a software tool for interpreting and predicting clinical pathogenicity of germline variants. CharGer gathers evidence from databases and annotations, provided by local tools and files or via ReST APIs, and classifies variants according to ACMG guidelines for assessing variant pathogenicity. User-designed pathogenicity criteria can be incorporated into...

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PMID: 30102335
DOI: 10.1093/bioinformatics/bty649

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