全基因组关联性研究的基因型填补

Genotype Imputation for Genome-wide Association Studies

目的以肺癌全基因组关联性研究为例,介绍基因型填补的基本原理和过程。方法利用MACH软件,基于1000Genome模板,以一号染色体体为例,对Affymatrix公司6.0芯片上的位点进行基因型填补。结果填补后,一号染色体上共有531497个位点。结论基因型填补可以恢复全基因组关联性研究中未基因分型或缺失的位点的信息。

Objective To introduce the theory and procedure of genotype imputation using an example from a genome-wide association study on lung cancer.Methods Based on the phased haplotypes from 1000 Genome project,MACH software was used to impute the 1st chromosome from the Affymatrix 6.0 Chip.Results After imputation,there were 531497 markers in the 1st chromosome.Conclusion Genotype Imputation could recover the information of un-genotyped markers in genome-wide association studies.