What it does
This tool uses KGGSeq to filter and prioritize genetic variants from sequencing data.
License and citation
This Galaxy tool is Copyright © 2013-2014 CRS4 Srl. and is released under the MIT license.
You can use this tool only if you agree to the license terms of: KGGSeq.
If you use this tool, please cite:
- Cuccuru, G., Orsini, M., Pinna, A., Sbardellati, A., Soranzo, N., Travaglione, A., Uva, P., Zanetti, G., Fotia, G. (2014) Orione, a web-based framework for NGS analysis in microbiology. Bioinformatics 30(13), 1928-1929
- Li, M.-X., et al. (2012) A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res. 40(7), e53
- Li, M.-X., et al. (2013) Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies. PLoS Genet. 9(1), e1003143.