A new open source tool for structural variant discovery: RAPTR-SV

[dbickhart]

Hello everyone,

We are pleased to present a new tool for Structural Variant (SV) discovery using whole-genome, paired-end sequence data: RAPTR-SV. In our tests against two benchmark datasets, we found that RAPTR-SV had superior sensitivity in detecting duplications compared to two similar SV discovery tools -- specifically Delly and Lumpy-SV. For additional information about our algorithm and tests against real datasets, please see our article in Bioinformatics:

http://bioinformatics.oxfordjournals.org/content/early/2015/02/16/bioinformatics.btv086.abstract

For source code, test datasets and program documentation, please see our GitHub repository page:

https://github.com/njdbickhart/RAPTR-SV

I am still actively developing the code, and I am eager to get feedback from the community. If you run into any bugs, or would like to request any new features, please feel to send me an email at the following address: derek.bickhart (at) ars.usda.gov

I would like to thank all of you in advance for your time and consideration.