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Although data mining and knowledge discovery techniques have recently been used to diagnose human disease, little research has been conducted on disease diagnostic modelling using human gene information. Furthermore, to our knowledge, no study has reported on diagnosis models using single nucleotide polymorphism (SNP) information. A disease diagnosis model using data mining techniques and SNP information should prove promising from a practical perspective as more information on human genes becomes available. Data mining and knowledge discovery techniques can be put to practical use detecting human disease, since a haplotype analysis using high-density SNP markers has gained great attention for evaluating human genes related to various human diseases. This paper explores how data mining and knowledge discovery can be applied to medical informatics using human gene information. As an example, we applied case-based reasoning to a cancer detection problem using human gene information and SNP analysis because case-based reasoning has been applied in medicine relatively less often than other data mining techniques. We propose a modified case-based reasoning method that is appropriate for associated categorical variables to use in detecting gastric cancer. [ABSTRACT FROM AUTHOR]

Case-based reasoning (CBR) has been used in various problem-solving areas such as financial forecasting, credit analysis and medical diagnosis. However, conventional CBR has the limitation that it has no criterion for choosing the nearest cases based on the probabilistic similarity of cases. It uses a fixed number of neighbors without considering an optimal number for each target case, so it does not guarantee optimal similar neighbors for various target cases. This leads to the weakness of lowering predictability due to deviation from desired similar neighbors. In this paper we suggest a new case extraction technique called statistical case-based reasoning. The main idea involves a dynamic adaptation of the optimal number of neighbors by considering the distribution of distances between potential similar neighbors for each target case. In order to do this, our technique finds the optimal distance threshold and selects similar neighbors satisfying the distance threshold criterion. We apply this new method to five real-life medical data sets and compare the results with those of the statistical method, logistic regression; we also compare the results with the learning methods C5.0, CART, neural networks and conventional CBR. The results of this paper show that the proposed technique outperforms those of many other methods, it overcomes the limitation of conventional CBR, and it provides improved classification accuracy. [ABSTRACT FROM AUTHOR]