| Summary: | 碩士 === 國立交通大學 === 統計學研究所 === 101 === Genotype imputation approaches are now widely used to predict the genotypes for rare variants that are not directly genotyped in the study sample. Using whole genome sequence data from the Genetic Analysis Workshop 18 data set, this report applies BEAGLE and IMPUTE v2 to impute, and compares the genotype imputation accuracy among reference panels representing different degrees of genetic similarity to a study sample of admixed Mexican Americans. Results show that a reference panel that closely matches the ancestry of the study population can increase imputation accuracy, but it can also result more missing genotype calls. Having a reference panel with larger size can reduce imputation error and missing genotype, but the improvement can be limited. We also find that, for the admixed study sample, the composite reference panel combining all available reference data is more appropriate than others.
|
|---|
