CharGer: Clinical Characterization of Germline variants

Adam D. Scott, Kuan Lin Huang, Amila Weerasinghe, R. Jay Mashl, Qingsong Gao, Fernanda Martins Rodrigues, Matthew A. Wyczalkowski, Li Ding

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

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 CharGer's flexible framework, thereby allowing users to create a customized classification protocol.

Original languageEnglish
Pages (from-to)865-867
Number of pages3
JournalBioinformatics
Volume35
Issue number5
DOIs
StatePublished - Mar 1 2019

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