PriorR
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.
Topics
Collections
Details
- License:
- CC-BY-NC-SA-4.0
- Maturity:
- Emerging
- Cost:
- Free of charge
- Tool Type:
- desktop application
- Operating Systems:
- Mac, Linux, Windows
- Programming Languages:
- R
- Added:
- 3/21/2022
- Last Updated:
- 3/22/2022
Operations
Documentation
User manual
https://github.com/TBLabFJD/PriorRLinks
Related Tools
fjd-pipeline
Relation: uses