CASMAP: detection of statistically significant combinations of SNPs in association mapping.

Autor: Llinares-López, Felipe, Papaxanthos, Laetitia, Roqueiro, Damian, Bodenham, Dean, Borgwardt, Karsten
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Zdroj: Bioinformatics; Aug2019, Vol. 35 Issue 15, p2680-2682, 3p
Abstrakt: Summary Combinatorial association mapping aims to assess the statistical association of higher-order interactions of genetic markers with a phenotype of interest. This article presents combinatorial association mapping (CASMAP), a software package that leverages recent advances in significant pattern mining to overcome the statistical and computational challenges that have hindered combinatorial association mapping. CASMAP can be used to perform region-based association studies and to detect higher-order epistatic interactions of genetic variants. Most importantly, unlike other existing significant pattern mining-based tools, CASMAP allows for the correction of categorical covariates such as age or gender, making it suitable for genome-wide association studies. Availability and implementation The R and Python packages can be downloaded from our GitHub repository http://github.com/BorgwardtLab/CASMAP. The R package is also available on CRAN. Supplementary information Supplementary data are available at Bioinformatics online. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index