Facultad de Informática, Universidade da Coruña, 15071, A Coruña, Spain.
CITIC, Computer Architecture Group, Facultad de Informática, Universidade da Coruña, 15071, A Coruña, Spain.
BMC Bioinformatics. 2022 Apr 2;23(1):117. doi: 10.1186/s12859-022-04645-7.
Epistasis is the interaction between different genes when expressing a certain phenotype. If epistasis involves more than two loci it is called high-order epistasis. High-order epistasis is an area under active research because it could be the cause of many complex traits. The most common way to specify an epistasis interaction is through a penetrance table.
This paper presents PyToxo, a Python tool for generating penetrance tables from any-order epistasis models. Unlike other tools available in the bibliography, PyToxo is able to work with high-order models and realistic penetrance and heritability values, achieving high-precision results in a short time. In addition, PyToxo is distributed as open-source software and includes several interfaces to ease its use.
PyToxo provides the scientific community with a useful tool to evaluate algorithms and methods that can detect high-order epistasis to continue advancing in the discovery of the causes behind complex diseases.
上位性是指在表现某种表型时不同基因之间的相互作用。如果上位性涉及两个以上的基因座，则称为高阶上位性。高阶上位性是一个活跃的研究领域，因为它可能是许多复杂特征的原因。指定上位性相互作用最常见的方法是通过穿透表。
本文介绍了 PyToxo，这是一种用于从任意阶上位性模型生成穿透表的 Python 工具。与文献中提供的其他工具不同，PyToxo 能够处理高阶模型和现实的穿透率和遗传率值，在短时间内实现高精度的结果。此外，PyToxo 作为开源软件发布，并包含了几个接口，以方便使用。
PyToxo 为科学界提供了一个有用的工具，用于评估可以检测高阶上位性的算法和方法，以继续推进复杂疾病背后原因的发现。
