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학술지 New Methods for Imputation of Missing Genotype using Linkage Disequilibrium and Haplotype Information
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저자
정호열, 박윤주, 김영진, 박정선, 김규찬, 고인송
발행일
200702
출처
Information Sciences, v.177 no.3, pp.804-814
ISSN
0020-0255
출판사
Elsevier
DOI
https://dx.doi.org/10.1016/j.ins.2006.07.017
협약과제
06MB1700, 바이오 데이터 마이닝 통합관리 핵심 S/W 컴포넌트 개발, 박선희
초록
In this paper, we propose new missing imputation methods for the missing genotype data of single nucleotide polymorphism (SNP). The common objective of imputation methods is to minimize the loss of information caused by experimental missing elements. In general, imputation of missing genotype data has used a major allele method, but this approach is not far from the objective of the imputation - minimizing the loss of information. This method generally produces high error rates of missing value estimation, since the characteristics of the genotype data are not considered over the structure of given genotype data. In our methods, we use the linkage disequilibrium and haplotype information for the missing SNP genotype. As a result, we provide the results of the comparative evaluation of our methods and major allele imputation method according to the various randomized missing rates. © 2006 Elsevier Inc. All rights reserved.
KSP 제안 키워드
Comparative Evaluation, Genotype data, Imputation methods, Linkage disequilibrium, Missing elements, Missing value estimation, Single nucleotide polymorphism, error rate, loss of information