How to Reveal Magnitude of Gene Signals: Hierarchical Hypergeometric Complementary Cumulative Distribution Function

Abstract

This article introduces a new method for genome-wide association study (GWAS), hierarchical hypergeometric complementary cumulative distribution function (HH-CCDF). Existing GWAS methods, e.g. the linear model and hierarchical association coefficient algorithm , calculate the association between a marker variable and a phenotypic variable. The ideal GWAS practice is to calculate the association between a marker variable and a gene-signal variable. If the gene-signal variable and phenotypic variable are imperfectly proportional, the existing methods do not properly reveal the magnitude of the association between the gene-signal variable and marker variable. The HH-CCDF mitigates the impact of the imperfect proportionality between the phenotypic variable and gene-signal variable and thus better reveals the magnitude of gene signals. The HH-CCDF will provide new insights into GWAS approaches from the viewpoint of revealing the magnitude of gene signals.