PyToxo: a Python tool for calculating penetrance tables of high-order epistasis models

Autor: Borja González-Seoane, Christian Ponte-Fernández, Jorge González-Domínguez, María J. Martín
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-13 (2022)
Druh dokumentu: article
ISSN: 1471-2105
DOI: 10.1186/s12859-022-04645-7
Popis: Abstract Background 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. Results 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. Conclusions 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.
Databáze: Directory of Open Access Journals
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