CharGer: clinical Characterization of Germline variants

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 A...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Bioinformatics
मुख्य लेखकों: Scott, Adam D, Huang, Kuan-Lin, Weerasinghe, Amila, Mashl, R Jay, Gao, Qingsong, Martins Rodrigues, Fernanda, Wyczalkowski, Matthew A, Ding, Li
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2019
विषय:
Applications Notes
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6394391/
https://ncbi.nlm.nih.gov/pubmed/30102335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty649
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