altAFplotter：一款用于 NGS 诊断中可靠 UPD 检测的网络应用程序。
altAFplotter: a web app for reliable UPD detection in NGS diagnostics.
机构信息
Institute of Human Genetics, Medical Facility, Leipzig University, Leipzig, Germany.
Centre of Medical Genetics, Department of Medical Genetics, University of Münster, Münster, Germany.
出版信息
BMC Bioinformatics. 2024 Sep 12;25(1):299. doi: 10.1186/s12859-024-05922-3.
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 research and diagnostic labs, which struggle identifying and interpreting UPDs in their NGS diagnostic setup. The information provided allows a quick interpretation of the results and thus is suitable for usage in a high throughput manner by clinicians and biologists.
背景
单亲二体（从单一亲本遗传两个染色体同源物，UPD）的检测不是大多数人类遗传学标准或商业 NGS 管道的一部分，因此这是 NGS 诊断中的一个常见空白。为了解决这个问题，我们开发了一种基于面板或外显子数据的 UPD 检测工具，该工具易于使用且可公开获取。
结果
该应用程序可在 https://altafplotter.uni-leipzig.de/ 免费获得，它是用 Python 编写的，使用 Streamlit 框架构建数据科学 Web 应用程序。它利用 bcftools 和 tabix 处理 vcf 文件。源代码可在 https://github.com/HUGLeipzig/altafplotter 上获得，并可用于托管自己的工具实例。
结论
我们相信该应用程序对研究和诊断实验室非常有益，因为它们在 NGS 诊断设置中难以识别和解释 UPD。提供的信息允许快速解释结果，因此适合临床医生和生物学家以高通量的方式使用。
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