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iAnnotateSV: Annotation of structural variants detected from NGS

Author:	Ronak H Shah
Contact:	[email protected]
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 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.

Citation

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.

Acknowledgements

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

Quick Usage

If you know python I have created a small test script in /iAnnotateSV/test directory it runs a test on existing code and compares the result with the output file.

Else To Run:

• If you want to run with default options:

python iAnnotateSV.py -i svFile.txt -o outputfile.txt -r hg19 -d 3000

• If you want to run with your own transcripts:

python iAnnotateSV.py -i svFile.txt -o outputfile.txt -r hg19 -d 3000 -c canonicalTranscripts.txt

usage: iAnnotateSV.py [options]

Annotate SV based on a specific human reference

optional arguments:

-h, --help	show this help message and exit
-v, --verbose	make lots of noise [default]
-r hg19, --refFileVersion hg19
	Which human reference file to be used, hg18,hg19 or hg38

-o outfile, --outputFile out.txt

Full path with for the output file

-i inputSVfile, --svFile svfile.txt

Location of the structural variants file to annotate

-d distance, --distance 3000

Distance used to extend the promoter region

-a, --autoSelect
	Auto Select which transcript to be used[default]

-c canonicalExonsFile, --canonicalTranscripts canonicalExons.txt

Location of canonical transcript list for each gene. Use only if you want the output for specific transcripts for each gene.

Input file format is a tab-delimited file containing:

chr1 pos1 str1 chr2 pos2 str2

as the header and where:

• chr1: Its the chromosome name for first break point [1,2,3,4,5,6,7 etc..],
• pos1: Its the chromosome loaction for first break point [1-based],
• str1: Its the read direction for the first break point [0=top/plus/reference, 1=bottom/minus/complement],
• chr2: Its the chromosome name for second break point [1,2,3,4,5,6,7 etc..],
• pos2: Its the chromosome loaction for second break point [1-based],
• str2: Its the read direction for the second break point [0=top/plus/reference, 1=bottom/minus/complement],

Output file will is a tab-delimited file containing:

chr1 pos1 str1 chr2 pos2 str2 gene1 transcript1 site1 gene2 transcript2 site2 fusion

as the header and where:

• chr1 : Its the chromosome name for first break point [1,2,3,4,5,6,7 etc..],
• pos1 : Its the chromosome loaction for first break point [1-based],
• str1 : Its the read direction for the first break point [0=top/plus/reference, 1=bottom/minus/complement],
• chr2 : Its the chromosome name for second break point [1,2,3,4,5,6,7 etc..],
• pos2 : Its the chromosome loaction for second break point [1-based],
• str2 : Its the read direction for the second break point [0=top/plus/reference, 1=bottom/minus/complement],
• gene1 : Gene for the first break point,
• transcript1 : Transcript used for the first breakpoint,
• site1 : Explanation of the site where the first breakpoint occurs [Example=>Intron of EWSR1(+):126bp after exon 10],
• gene2 : Gene for the second break point,
• transcript2 : Transcript used for the second breakpoint,
• site2 : Explanation of the site where the second breakpoint occurs [Example=>Intron of ERG(-):393bp after exon 4],
• fusion : Explanation if the evnet leads to fusion or not. [Example=>Protein Fusion: in frame {EWSR1:ERG}]

Please look at examples of input and output files in /data/test directory where: /data/test/testData.txt is the input file /data/test/testResult.txt is the output file

The refFileVersion are automaticslly chosen from /data/references. But caution this is only tested on hg19. All these files are created using UCSC table browser.

The example for canonical transcripts can be also found in /data/canonicalInfo. In general the file is tab-delimited containing:

Gene Transcripts

as the headers where:

• Gene : Gene symobol should match the gene name from /data/references file.
• Transcripts : Transcripts is a particular transcript that you are interested in using instead of auto-selection.