soft_exomiser

Resume :

Software to finds potential disease-causing variants from whole-exome or whole-genome sequencing data. Based on Jannovar and uses UCSC KnownGene.

• Website
• INPUTS : VCF
• OUTPUTS : TSV, VCF
• OS : Linux, Windows
• Techno : java, + online demo

Pros: GNU AGPL (V3) - ie. free to use, change, and share this software use of phenotype onthology (HPO) a simplified online interface to test the tool here link result with external viewer like genome.ucsc.edu or ensembl

Cons : not user friendly - no GUI, only command line and "bash script" file to work "one shot" - no interactivity, run the command on the input file and basta user alone - no simple way to share work with other users, or to reuse filters set in another project not for MacOS - only available for Windows and Linux

Screenshots