An expert knowledge-guided mutation operator for genome-wide genetic analysis using genetic programming

Abstract

Human genetics is undergoing a data explosion. Methods are available to measure DNA sequence variation throughout the human genome. Given current knowledge it seems likely that common human diseases are best predicted by interactions between biological components, which can be examined as interacting DNA sequence variations. The challenge is thus to examine these high-dimensional datasets to identify combinations of variations likely to predict common diseases. The goal of this paper was to develop and evaluate a genetic programming (GP) mutator suited to this task by exploiting expert knowledge in the form of Tuned ReliefF (TuRF) scores during mutation. We show that using expert knowledge guided mutation performs similarly to expert knowledge guided selection. This study demonstrates that in the context of an expert knowledge aware GP, mutation may be an appropriate component of the GP used to search for interacting predictors in this domain. © Springer-Verlag Berlin Heidelberg 2007.