Priorr is a prioritization program of disease-linked genetic variants devoloped within the Genetics&Genomics Department of La Fundacion Jimenez Diaz University Hospital. Priorr is conceived to analyse the output of the FJD-pipeline of SNVs or CNVs. This software program offers a number of useful functionalities for variant analysis such as: 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.
- Raquel Romero Fernández
- Gonzalo Núñez Moreno
VariantCallingFJD source code is provided under the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0). VariantCallingFJD includes several third party packages provided under other open source licenses, please check them for additional details.
PriorR is available at dockerhub, instructions for installation and execution can be found in https://hub.docker.com/r/tblabfjd/priorr.