{"title":"用于疾病相关位点检测的单倍型模式挖掘与分类","authors":"T. Kido, Masanori Baba, Hirohito Matsumine, Yoko Higashi, Hirotaka Higuchi, Masaaki Muramatsu","doi":"10.1109/CSB.2003.1227369","DOIUrl":null,"url":null,"abstract":"Finding the causative genes for common diseases using SNP (single nucleotide polymorphism) markers is now becoming a real challenge. Although traditional statistical SNP association tests exist, these tests could not explain the effects of SNP combinations or probable recombination histories from ancestral chromosomes. Haplotype analysis of disease associated site provides more powerful markers than individual SNP analysis, and can help identify probable causative mutations. In this paper, we introduce a new method for effective haplotype pattern mining to detect disease associated mutations. Using this procedure, we can discover some of the new disease associated SNPs, which can not be detected by traditional methods. We will introduce a powerful tool for implementing this procedure with some worked examples.","PeriodicalId":147883,"journal":{"name":"Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003","volume":"6 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2003-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Haplotype pattern mining & classification for detecting disease associated site\",\"authors\":\"T. Kido, Masanori Baba, Hirohito Matsumine, Yoko Higashi, Hirotaka Higuchi, Masaaki Muramatsu\",\"doi\":\"10.1109/CSB.2003.1227369\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Finding the causative genes for common diseases using SNP (single nucleotide polymorphism) markers is now becoming a real challenge. Although traditional statistical SNP association tests exist, these tests could not explain the effects of SNP combinations or probable recombination histories from ancestral chromosomes. Haplotype analysis of disease associated site provides more powerful markers than individual SNP analysis, and can help identify probable causative mutations. In this paper, we introduce a new method for effective haplotype pattern mining to detect disease associated mutations. Using this procedure, we can discover some of the new disease associated SNPs, which can not be detected by traditional methods. We will introduce a powerful tool for implementing this procedure with some worked examples.\",\"PeriodicalId\":147883,\"journal\":{\"name\":\"Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003\",\"volume\":\"6 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2003-08-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1109/CSB.2003.1227369\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1109/CSB.2003.1227369","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Haplotype pattern mining & classification for detecting disease associated site
Finding the causative genes for common diseases using SNP (single nucleotide polymorphism) markers is now becoming a real challenge. Although traditional statistical SNP association tests exist, these tests could not explain the effects of SNP combinations or probable recombination histories from ancestral chromosomes. Haplotype analysis of disease associated site provides more powerful markers than individual SNP analysis, and can help identify probable causative mutations. In this paper, we introduce a new method for effective haplotype pattern mining to detect disease associated mutations. Using this procedure, we can discover some of the new disease associated SNPs, which can not be detected by traditional methods. We will introduce a powerful tool for implementing this procedure with some worked examples.