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)

• 作 者: 李传星 杜磊 李霞 宫滨生 张杰 饶绍奇
• 机 构: 哈尔滨医科大学生物信息学系,哈尔滨医科大学生物信息学系,哈尔滨医科大学生物信息学系,哈尔滨医科大学生物信息学系,哈尔滨医科大学生物信息学系,哈尔滨医科大学生物信息学系 哈尔滨150086,哈尔滨150
• 出 处: 北京大学学报(医学版)
• 发表日期: 2006年01期
• 关键词: 医学信息学 多因子遗传 子标记 基因组 基因组结构 单核苷酸 多态性 英文 http redundant

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. 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 effic ient for large-scale genomic mining.