• Medientyp: E-Artikel
  • Titel: CASMAP: detection of statistically significant combinations of SNPs in association mapping
  • Beteiligte: Llinares-López, Felipe; Papaxanthos, Laetitia; Roqueiro, Damian; Bodenham, Dean; Borgwardt, Karsten
  • Erschienen: Oxford University Press (OUP), 2019
  • Erschienen in: Bioinformatics, 35 (2019) 15, Seite 2680-2682
  • Sprache: Englisch
  • DOI: 10.1093/bioinformatics/bty1020
  • ISSN: 1367-4803; 1367-4811
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  • Beschreibung: Abstract 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.
  • Zugangsstatus: Freier Zugang