| 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 |
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| 引用本文： | 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 |
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| 作者姓名： | 李传星 杜磊 李霞 宫滨生 张杰 饶绍奇 |
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| 作者单位： | (1.哈尔滨医科大学生物信息学系,哈尔滨 150086;2.哈尔滨工业大学计算科学学院；3.Departments of Cardiovascular Medicine and Molecular Cardiology, Cleveland Clinic Foundation, Cleveland, Ohio 44195,USA) |
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| 基金项目： | 中国科学院资助项目 , 国家高技术研究发展计划(863计划) , 国家"211"工程建设项目 , 科技部专项基金 , 哈尔滨医科大学校科研和教改项目 , 黑龙江省科技攻关项目 |
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| 摘 要： | Single nucleotidepolymorphism(SNP)isthemostwidespreadformofDNApolymorphisminhumangenome,thuspermittinglarge scaleandhigh densitygenome wideprofiling.SNPsaregenerallyconsideredtobeidealgeneticmarkersforgeneticinvestigations,astheyarecommon,stableandincreas…
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| 关 键 词： | 多态性 单核苷酸 医学信息学 多因子遗传 基因组 |
| 文章编号： | 1671-167X(2006)01-0074-04 |
| 修稿时间： | 2005-10-12 |
Novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context |
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| Chuan-xing LI,Lei DU,Xia LI,Bin-sheng GONG,Jie ZHANG,Shao-qi RAO. Novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context[J]. Journal of Peking University. Health sciences, 2006, 38(1): 74-77 |
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| Authors: | Chuan-xing LI Lei DU Xia LI Bin-sheng GONG Jie ZHANG Shao-qi RAO |
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| Affiliation: | Department of Bioinformatics, Harbin Medical University, Harbin 150086, China. |
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| 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. |
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| Keywords: | Polymorphism single nucleotide Medical informatics Multifactorial inheritance Genome |
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