EM 알고리듬을 이용한 단일염기변이 (SNP;SINGLE NUCLEOTIDE POLYMORPHISM)군의 일배체형 (HAPLOTYPE) 비율 추정

Abstract

Haplotype analysis in SNP is very useful for the study of complex genetic disease due to low cost and high efficiency comparing to individual analysis of each SNP, and is functionally important in biological view. But, the gametic phase of haplotypes is usually unknown in SNP group, and it is difficult to predict haplotype proportions. In this study, haplotype proportions were estimated using EM algorithm from diploid data of SNP group in solid tumor group and normal group. From these results, linkage disequilibrium among SNPs was analyzed.