GeneBreaker is a tool which facilitates the creation of rare genetic disease scenarios, allowing user to make novel variants of multiple classes or draw from databases of known pathogenic events.
- Overview
- Downstream Benchmarking
- Codebase
GeneBreaker is developed by Phillip A. Richmond and Tamar V. Av-Shalom within Wyeth Wasserman's laboratory at the University of British Columbia. GeneBreaker is deployed as a website, and has an associated capacity for downstream benchmarking through this github repository.
You can find the website with variant simulation capacity and previously simulated variant sets at:
http://genebreaker.cmmt.ubc.ca
The manuscript detailing GeneBreaker can be found on biorXiv at:
https://www.biorxiv.org/content/10.1101/2020.05.29.124495v1
For issues with the website, downstream benchmarking, or comments on the manuscript and tool, please post issues on this github repository.
Downstream Benchmarking can either include full simulation of the variant(s) with VarSim, or burying the variants (SNVs and indels only) within background trio genomes. The Benchmarking transition, help facilitate taking your simulated variants from the GeneBreaker website, and generating more complete data.
For details on how to use the downstream benchmarking, please go to the BenchmarkingTransition/ directory.