EpiGEN: An epistasis simulation pipeline

Blumenthal DB, Viola L, List M, Baumbach J, Tieri P, Kacprowski T (2020)

Publication Type: Journal article

Publication year: 2020


Book Volume: 36

Pages Range: 4957-4959

Journal Issue: 19

URI: https://academic.oup.com/bioinformatics/advance-article/doi/10.1093/bioinformatics/btaa245/5820008?guestAccessKey=2385c5f1-6587-4065-b2f2-1039765fa5b6

DOI: 10.1093/bioinformatics/btaa245


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.

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Blumenthal, D.B., Viola, L., List, M., Baumbach, J., Tieri, P., & Kacprowski, T. (2020). EpiGEN: An epistasis simulation pipeline. Bioinformatics, 36(19), 4957-4959. https://doi.org/10.1093/bioinformatics/btaa245


Blumenthal, David B., et al. "EpiGEN: An epistasis simulation pipeline." Bioinformatics 36.19 (2020): 4957-4959.

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