ABACUS: an entropy-based cumulative bivariate statistic robust to rare variants and different direction of genotype effect

@article{Camillo2014ABACUSAE,
  title={ABACUS: an entropy-based cumulative bivariate statistic robust to rare variants and different direction of genotype effect},
  author={Barbara Di Camillo and Francesco Sambo and Gianna Toffolo and Claudio Cobelli},
  journal={Bioinformatics},
  year={2014},
  volume={30 3},
  pages={384-91}
}
MOTIVATION In the past years, both sequencing and microarray have been widely used to search for relations between genetic variations and predisposition to complex pathologies such as diabetes or neurological disorders. These studies, however, have been able to explain only a small fraction of disease heritability, possibly because complex pathologies cannot be referred to few dysfunctional genes, but are rather heterogeneous and multicausal, as a result of a combination of rare and common… CONTINUE READING
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