EpiGEN: An epistasis simulation pipeline

David B. Blumenthal; Lorenzo Viola; Markus List; Jan Baumbach; Paolo Tieri; Tim Kacprowski

doi:10.1093/bioinformatics/btaa245

EpiGEN: An epistasis simulation pipeline

David B. Blumenthal, Lorenzo Viola, Markus List, Jan Baumbach, Paolo Tieri, Tim Kacprowski

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Abstract

Simulated data are crucial for evaluating epistasis detection tools in genome-wide association studies. Existing simulators are limited, as they do not account for linkage disequilibrium (LD), support limited interaction models of single nucleotide polymorphisms (SNPs) and only dichotomous phenotypes or depend on proprietary software. In contrast, EpiGEN supports SNP interactions of arbitrary order, produces realistic LD patterns and generates both categorical and quantitative phenotypes. Availability and implementation: EpiGEN is implemented in Python 3 and is freely available at https://github.com/ baumbachlab/epigen.

Original language	English
Pages (from-to)	4957-4959
Number of pages	3
Journal	Bioinformatics
Volume	36
Issue number	19
DOIs	https://doi.org/10.1093/bioinformatics/btaa245
State	Published - 1 Oct 2020

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AU - Tieri, Paolo

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EpiGEN: An epistasis simulation pipeline

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