EpiGEN: an epistasis simulation pipeline-Reference-Cited by-同舟云学术

EpiGEN: an epistasis simulation pipeline

Published:2020-04-14 Issue:19 Volume:36 Page:4957-4959
ISSN:1367-4803
Container-title:Bioinformatics
language:en
Short-container-title:

Author:

Blumenthal David B¹^ORCID,Viola Lorenzo¹,List Markus¹^ORCID,Baumbach Jan¹^ORCID,Tieri Paolo²^ORCID,Kacprowski Tim¹^ORCID

Affiliation:

1. Technical University of Munich, School of Life Sciences Weihenstephan, Chair of Experimental Bioinformatics, 85354 Freising, Germany

2. CNR National Research Council, IAC Institute for Applied Computing, 00185 Rome, Italy

Abstract

Abstract Summary 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. Supplementary information Supplementary data are available at Bioinformatics online.

Funder

COST

Tornosubito

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

Link

http://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btaa245/34001366/btaa245.pdf

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