AltAFplotter: a web app for reliable UPD detection in NGS diagnostics.

ABSTRACT:

Background

The detection of uniparental disomies (the inheritance of both chromosome homologues from a single parent, UPDs) is not part of most standard or commercial NGS-pipelines in human genetics and thus a common gap in NGS diagnostics. To address this we developed a tool for UPD-detection based on panel or exome data which is easy to use and publicly available.

Results

The app is freely available at https://altafplotter.uni-leipzig.de/ and implemented in Python, using the Streamlit framework for data science web apps. It utilizes bcftools and tabix for processing vcf files. The source code is available at https://github.com/HUGLeipzig/altafplotter and can be used to host your own instance of the tool.

Conclusion

We believe the app to be a great benefit for resear

SUBMITTER: Radtke M 

PROVIDER: S-EPMC11391601 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature