tblabfjd/priorr repository overview

⁠PRIORR

Priorr is a filtering and prioritization program of disease-linked genetic variants developed within the Genetics&Genomics Department of La Fundacion Jimenez Diaz University Hospital. PriorR performs annotation of VCFs and subsequent variant visualization in a GUI, where different filters and functions can be applied to perform the analysis. This program offers a number of useful functionalities for variant analysis such as: variant and gene prioritization, filtering by a virtual panel of genes. manual control of different population frequencies or pathogenicity predictors or filtering out variants that have been already found by another protocol.

⁠Run with Docker

Pull our docker image

docker pull tblabfjd/priorr:FJD

Create the Session volume and copy the program data into it (only the first time).

docker volume create session

Run the image

docker run -d -v session:/home tblabfjd/priorr:FJD
docker run -p 8888:8888 -it --mount source=session,destination=/session -v  path_to_local_annotation_dir:/home/app/resources tblabfjd/priorr:FJD

If you need the annotation, download annotation files (only first time), specifying the assembly to use: GRCh37 or GRCh38 |or both

docker run -v path_to_local_annotation_dir:/home/app/resouces -u $(id -u):$(id -g) tblabfjd/priorr bash /home/app/download_annotation.sh /home/app/resouces [GRCh37 | GRCh38 | both]

then open your web browser to http://127.0.0.1:8888/⁠

⁠Bug reports

Please contact Raquel Romero⁠ in case you find a bug.