porebskis/exnverify repository overview

eXNVerify (abbreviation from eXon and SNV Verification) includes Python-based tools for extraction of clinically important genome sequence regions and verification of their coverage quality. Prepared tools wrapped into ready-to-go Docker container allow presenting the results of analysis in an intuitive way for genetic diagnostician. Two independent executables take BED file as the whole genome/exome sequence coverage and:

1. geneCoverage.py performs detailed verfication of pathogenic germline and somatic single nucletide variants (SNV) for chosen gene(s) in a graphical from,
2. snvScore.py analyses the whole genome sequence coverage and evaluate all pathogenic germline and somatic SNV coverage quality.

Both tools prepare also the text report of the analysis which focuses on calculation of the percentage of SNVs that are covered with a user-defined level.

Full documentation can be found at: https://github.com/porebskis/eXNVerify/⁠