About VNtyper 2¶
VNtyper 2 is a bioinformatics pipeline for genotyping MUC1 coding Variable Number Tandem Repeats (VNTRs) in Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-MUC1) using short-read sequencing data.
Project¶
VNtyper 2 was created by Hassan Saei and Bernt Popp to address the challenge of detecting pathogenic frameshift mutations within the highly repetitive MUC1 VNTR region, where conventional variant-calling pipelines struggle.
The tool combines mapping-free k-mer analysis (Kestrel) with optional alignment-based methods (adVNTR) to provide accurate and reproducible genotyping from standard whole-genome or whole-exome sequencing data.
Key Resources¶
- Project Home
- github.com/hassansaei/VNtyper
- Web Server
- vntyper.org
- Current Version
- 2.0.47 (see the Changelog for release history).
- License
- BSD 3-Clause
Getting Help¶
- If you encounter a problem or have a question, please open an issue on the GitHub repository:
Before opening a new issue, search existing issues to check if your question has already been addressed.
How to Cite¶
If you use VNtyper 2 in your research, please cite the corresponding publications. See the Citation page for full details and BibTeX entries.