| Summary: | 碩士 === 國立彰化師範大學 === 數學系 === 106 === In some case-control studies of rare diseases, there were have very few case but the control group had more samples than the case, When number of cases less than 5, and the gene sequencing were quite long, even if nonparametric statistics were useless. To cope with this situation, Imai et al. (2015) developed a statistic method by using pairing scheme, Hamming distance ratio and t-statistic to developed a statistical method for detecting pathogenic genes. In this study, we adopt a more flexible scan statistic method to detect case-related genes by the same pairing scheme. Finally, we verify the detection ability of the method for pathogenic genes by real data.
We studied the data of multiple intestinal atresia (MIA) and Osteogenesis imperfecta (OI), used pairing scheme and maximum segment score to explore the ability of this method to detect pathogenesis-related genes.
The disease-related gene of MIA and OI identified by our method were consistent with Imai et al.(2015)’s results, indicating that our method may have potential application on the sequencing data of recessive rare diseases.
Keywords: maximum segment score, rare disease
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