通用:用于遗传风险评分和孟德尔随机化的Python工具包。

IF 2.4 Q2 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Bioinformatics advances Pub Date : 2024-12-24 eCollection Date: 2025-01-01 DOI:10.1093/bioadv/vbae207
Cyprien A Rivier, Santiago Clocchiatti-Tuozzo, Shufan Huo, Victor Torres-Lopez, Daniela Renedo, Kevin N Sheth, Guido J Falcone, Julian N Acosta
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引用次数: 0

摘要

动机:来自全基因组关联研究的遗传关联数据的扩展增加了多基因风险评分(PRS)和孟德尔随机化(MR)等方法在遗传流行病学中的重要性。然而,它们的应用常常受到复杂的、多步骤的工作流程的阻碍,这些工作流程需要专门的专业知识和使用具有不同数据格式化需求的不同工具。现有的解决方案通常是独立的软件包或基于命令行——很大程度上是由于依赖于plink等工具——限制了没有计算经验的研究人员的可访问性。鉴于Python的流行和易用性,需要一个集成的、用户友好的Python工具包来简化PRS和MR分析。结果:我们介绍了general,这是一个Python包,它将snp级别的数据处理、清理、聚集、PRS计算和MR分析整合到一个单一的、内聚的工具包中。通过包装PLINK,消除了对多个R包和命令行交互的需求,general降低了医学科学家进行复杂遗传流行病学研究的障碍。general从几个成熟的工具中汲取概念,确保用户能够在直观的Python环境中访问严格的统计技术。此外,通用利用并行处理MR方法,包括MR- presso,大大减少了这些分析所需的计算时间。可用性和实现:该包可在Pypi (https://pypi.org/project/genal-python/)上获得,代码可在Github上公开获得,并提供教程:https://github.com/CypRiv/genal,文档可在readthedocs: https://genal.rtfd.io上找到。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genal: a Python toolkit for genetic risk scoring and Mendelian randomization.

Motivation: The expansion of genetic association data from genome-wide association studies has increased the importance of methodologies like Polygenic Risk Scores (PRS) and Mendelian Randomization (MR) in genetic epidemiology. However, their application is often impeded by complex, multi-step workflows requiring specialized expertise and the use of disparate tools with varying data formatting requirements. Existing solutions are frequently standalone packages or command-line based-largely due to dependencies on tools like PLINK-limiting accessibility for researchers without computational experience. Given Python's popularity and ease of use, there is a need for an integrated, user-friendly Python toolkit to streamline PRS and MR analyses.

Results: We introduce Genal, a Python package that consolidates SNP-level data handling, cleaning, clumping, PRS computation, and MR analyses into a single, cohesive toolkit. By eliminating the need for multiple R packages and for command-line interaction by wrapping around PLINK, Genal lowers the barrier for medical scientists to perform complex genetic epidemiology studies. Genal draws on concepts from several well-established tools, ensuring that users have access to rigorous statistical techniques in the intuitive Python environment. Additionally, Genal leverages parallel processing for MR methods, including MR-PRESSO, significantly reducing the computational time required for these analyses.

Availability and implementation: The package is available on Pypi (https://pypi.org/project/genal-python/), the code is openly available on Github with a tutorial: https://github.com/CypRiv/genal, and the documentation can be found on readthedocs: https://genal.rtfd.io.

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CiteScore
1.60
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