北京大学学报（医学版）
北京大學學報（醫學版）
북경대학학보（의학판）
JOURNAL OF BEIJING MEDICAL UNIVERSITY(HEALTH SCIENCES)
2006年
1期
74-77
,共4页
李传星%杜磊%李霞%宫滨生%张杰%饶绍奇
李傳星%杜磊%李霞%宮濱生%張傑%饒紹奇
리전성%두뢰%리하%궁빈생%장걸%요소기
多态性,单核苷酸%医学信息学%多因子遗传%基因组
多態性,單覈苷痠%醫學信息學%多因子遺傳%基因組
다태성,단핵감산%의학신식학%다인자유전%기인조
Polymorphism,single nucleotide%Medical informatics%Multifactorial inheritance%Genome
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.
