RegTools is a set of tools that integrate DNA-seq and RNA-seq data to help interpret mutations in a regulatory and splicing context. You can find the source code at our GitHub repository or just use our Docker image without need for installation.
- Extract exon-exon junctions from a RNAseq BAM file.
- Annotate exon-exon junctions with information from a known transcriptome.
- Annotate variants with splice-region(the definition of this region is configurable) annotations.
Clone and install regtools by running:
git clone https://github.com/griffithlab/regtools cd regtools/ mkdir build cd build/ cmake .. make
For information about the individual RegTools commands, please see the Commands page
You can find a bioRxiv preprint describing our intial validation of RegTools here
We have recently applied RegTools to the TCGA data. As part of our commitment to open-access data sharing, we have
made the output files from
junctions annotate and
cis-splice-effects identify available for download via AWS S3. For information on how to download this data, please refer to our datamed.org entries located here: junctions annotate results and cis-splice-effects identify results
If you have issues using the project, please let us know. We have a mailing list located at: firstname.lastname@example.org and the forum is here. Github issues are another option to contact the project about potential bugs.
RegTools uses several open-source libraries. We would like to thank the developers of htslib and bedtools. We would also like to thank Travis Abbott for useful comments and code.
The project is licensed under the MIT license.