Combinatorial Association Mapping

Enlarged view: Cover of the Bioinformatics journal

Felipe Llinares-Lopez, Laetitia Papaxanthos, Damian Roquiero, Dean Bodenham and Karsten Borgwardt

CASMAP: Detection of statistically significant combinations of SNPs in association mapping

Summary

While the majority of prior work in association mapping searches for univariate or additive associations between genotype and phenotype, combinatorial association mapping instead aims to discover statistically significant higher-order interactions of genetic markers. In recent years, our group has been at the forefront of the development of new techniques for combinational association mapping, which span multiple publications.

In order to make our work in this domain more accessible to practitioners, we have developed CASMAP, a new software package for combinatorial association mapping in genome-wide association studies. Available both in Python and R, CASMAP allows users to easily carry out region-based association studies and to search for higher-order epistatic interactions of binary markers while correcting for the effect of categorical covariates.

Code

The code is available on external pageGitHub.

Reference

CASMAP: Detection of statistically significant combinations of SNPs in association mapping

Felipe Llinares-Lopez*, Laetitia Papaxanthos*, Damian Roquiero, Dean Bodenham° and Karsten Borgwardt° (* = equal contribution, ° = joint supervision)
Bioinformatics 2019, 35 (15): 2680–2682
external pageOnline
  |  external pageGithub  |  ETH Research Collection

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