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

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http://hdl.handle.net/2183/31178Collections
- Investigación (FIC) [1656]
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PyToxo: a Python tool for calculating penetrance tables of high-order epistasis modelsAuthor(s)
Date
2022Citation
González-Seoane, B., Ponte-Fernández, C., González-Domínguez, J. et al. PyToxo: a Python tool for calculating penetrance tables of high-order epistasis models. BMC Bioinformatics 23, 117 (2022). https://doi.org/10.1186/s12859-022-04645-7
Abstract
[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.
Keywords
Simulation
Epistasis model
Gene interaction
Penetrance
Prevalence
Heritability
Python
SymPy
Epistasis model
Gene interaction
Penetrance
Prevalence
Heritability
Python
SymPy
Editor version
Rights
Atribución 3.0 España