基于IBD谱和基因组结构的复杂疾病相关分子标记识别的新策略(英文)  

Novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context

作　　者：李传星[1] 杜磊[1] 李霞[1] 宫滨生[1] 张杰[1] 饶绍奇[1] 

机构地区：[1]哈尔滨医科大学生物信息学系,哈尔滨150086

出　　处：《北京大学学报（医学版）》2006年第1期74-77,共4页Journal of Peking University:Health Sciences

基　　金：国家自然科学基金;国家高技术研究发展计划专项经费资助;国家"211工程"学科建设项目;国家"十五"科技攻关;哈尔滨医科大学;黑龙江省攻关重点项目~~

摘　　要：Objective: To develop novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context.Methods: In the proposed strategies, we define four relevancy criteria for mapping SNP-phenotype relationships-point-wise IBD mean difference, averaged IBD difference for window, Z curve and averaged slope for window.Results: Application of these criteria and permutation test to 100 simulated replicates for two hypothetical American populations to extract the relevant SNPs for alcoholism based on sib-pair IBD profiles of pedigrees demonstrates that the proposed strategies have successfully identified most of the simulated true loci.Conclusion: The data mining practice implies that IBD statistic and genomic context could be used as the informatics for locating the underlying genes for complex human diseases. Compared with the classical Haseman-Elston sib-pair regression method, the proposed strategies are more efficient for large-scale genomic mining.Objective： To develop novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context. Methods： In the proposed strategies, we define four relevancy criteria for mapping SNP-phenotype relationships-point-wise IBD mean difference, averaged IBD difference for window, Z curve and averaged slope for window. Resuits ： Application of these criteria and permutation test to 100 simulated replicates for two hypothetical American populations to extract the relevant SNPs for alcoholism based on sib-pair IBD profiles of pedigrees demonstrates that the proposed strategies have successfully identified most of the simulated true loci. Conclusion： The data mining practice implies that IBD statistic and genomic context could be used as the informatics for locating the underlying genes for complex hulnan diseases. Compared with the classical Haseman-Elston sib-pair regression method, the proposed strategies are more efficient for large-scale genomic mining.

关 键 词：多态性 单核苷酸 医学信息学 多因子遗传 基因组 

分 类 号：R394[医药卫生—医学遗传学]