Variant LifePipe ®
Variant analysis in human genetics
VARIANT LIFEPIPE® is a SaaS bioinformatics software, for research use only, dedicate to secondary and tertiary analysis as well as detection of variants in human genetics for medical laboratories, research and the pharmaceutical industry.
Workflow's steps
1 – Alignment :
Alignment of sequences on a reference genome. Statistical calculations of QC Metrics (average depth, capture percentage)
2 – Detection of variant :
Search using a combination of variant calling tools, qualitative and functional annotation of variants. Estimations of allelic frequencies (VAF).
3 – Machine Learning :
Prediction of variants of interest via Life & Soft’s Machine Learning tool.
4 – Result :
Dynamic and customizable results on Variant LifePipe® interface. Report generation (global and per patient).
3 available workflows
Some features...
Analysis :
- SNV & Indels
- CNV
- Fusion genes
- UMI management
- Annotations choices
- Machine Learning
Data processing :
- Quality alerts
- Virtual subpanels
- Interactive filters
- Collaborative analysis
- Data export