nanotatoR

github.com/vilainlab/nanotatorexternaldb

A tool for enhanced annotation of genomic structural variants. nanotatoR: next generation structural variant annotation and classification. Whole genome sequencing (WGS) has successfully been used to identify single-nucleotide variants (SNV), small insertions and deletions and, more recently, small copy number variants. nanotatoR: structural variant annotation and classification author: "Surajit Bhattacharya,Hayk Barsheghyan, Emmanuele C Delot and Eric Vilain. Short-read sequencing (SRS) is the predominant technique of DNA sequencing used for clinical diagnosis.

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