Cargando…

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

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 commo...

Descripción completa

Detalles Bibliográficos
Autores principales: González-Seoane, Borja, Ponte-Fernández, Christian, González-Domínguez, Jorge, Martín, María J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977015/
https://www.ncbi.nlm.nih.gov/pubmed/35366804
http://dx.doi.org/10.1186/s12859-022-04645-7
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04645-7.