AMLVaran, the AML Variant Analyzer is a web-based software platform for variant analysis on targeted NGS data, addressing the requirements of a clinical setting.
This platform covers the complete workflow from raw sequencing data to interactive clinical reports.
It provides a flexible, modular analysis pipeline that can combine an arbitrary number of variant calling tools, and offers a generic model for variant filtering through a customizable scoring scheme.
AMLVaran includes a user-friendly interface that presents results in form of a structured clinical report with interactive features, which support further research. Furthermore, comprehensive curated data on therapy-relevant hotspot regions are incorporated, and presence, absence, or coverage of known driver mutations related to a chosen disease entity is provided.
AMLVaran was tested for use with AML data, but is intended as a generic system adaptable to other cancer types. Since the software is designed for clinical application, AMLVaran's focus is the generation of accurate and reliable results.
This software is intended for RESEARCH USE only!
The software components need to be adapted to local reqiurements.
Especially the variant calling parameters are to be adapted for the type of data to be used.
Importantly, the system needs to be assembled and validated locally before use!
This code is provided 'AS IS' and any express or implied warranties, including, but not limited to, the implied warranties of merchantability and fitness for a particular purpose are disclaimed.
Source code and installation instructions are provided via GitHub at https://github.com/cwuensch/AMLVaran.
Wünsch, C., Banck, H., Müller-Tidow, C. et al. AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting. BMC Med Genomics 13, 17 (2020). https://doi.org/10.1186/s12920-020-0668-3