iAnnotateSV: Annotation of structural variants detected from NGS

Author:Ronak H Shah
Source code:http://github.com/rhshah/iAnnotateSV
License:Apache License 2.0

iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Generation DNA sequencing data. This works for majority is just a re-writing of a tool called dRanger_annotate written in matlab by Mike Lawrence at Broad Institue. But it also has some additional functionality and control over the annotation w.r.t the what transcripts to be used for annotation. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina.

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We are in the process of publishing a manuscript describing iAnnotateSV as part of the Structural Variant Detection framework. If you use this software in a publication, for now, please cite our website iAnnotateSV.


I would like to thanks Mike Lawrence from Braod Institue for sharing his code and Michael Berger for his inshgts into the dRanger_Annoate tool.

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