ABACUS (Algorithm based on a BivAriate CUmulative Statistic) is designed to identify SNPs significantly associated with a disease within predefined sets of SNPs such as pathways or genomic regions.Applied to a whole SNP dataset, ABACUS gives as output a list of SNP-sets associated with the disease and, for each SNP-set, the list of significant SNPs. ABACUS is robust to the concurrent presence of SNPs with protective and detrimental effects and of common and rare variants; moreover it is powerful even when few SNPs in the SNP-set are associated with the phenotype.
- R package
:: MORE INFORMATION
Di Camillo B, Sambo F, Toffolo G, Cobelli C.
ABACUS: an entropy based cumulative bivariate statistic robust to rare variants and different direction of genotype effect .
Bioinformatics. 2014 Feb 1;30(3):384-91. doi: 10.1093/bioinformatics/btt697.