北京大学学报（医学版）2006，Vol.38Issue(1)：74-77,4.
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
Novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context
摘要
Abstract
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.关键词
多态性,单核苷酸/医学信息学/多因子遗传/基因组Key words
Polymorphism, single nucleotide/Medical informatics/Multifactorial inheritance/Genome分类
医药卫生引用本文复制引用
李传星,杜磊,李霞,宫滨生,张杰,饶绍奇..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[J].北京大学学报（医学版）,2006,38(1):74-77,4.基金项目
Supported by the National Natural Sciences Foundation of China (30170515, 30370798, 30570424 and 30571034) （30170515, 30370798, 30570424 and 30571034）
The National High Technology Research and Development Program of China (2003AA2Z2051) （2003AA2Z2051）
211 Project （）
The Tenth "Five-year" Plan （）
Harbin Medical University and Heilongjiang Province Science and Technology Key Project (GB03C602-4 and 1055HG009) 国家自然科学基金 （GB03C602-4 and 1055HG009）
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 （）
哈尔滨医科大学和黑龙江省攻关重点项目 （）
