Comparison and assessment of family- and population-based genotype imputation methods in large pedigrees.

ABSTRACT: Genotype imputation is widely used in genome-wide association studies to boost variant density, allowing increased power in association testing. Many studies currently include pedigree data due to increasing interest in rare variants coupled with the availability of appropriate analysis tools. The performance of population-based (subjects are unrelated) imputation methods is well established. However, the performance of family- and population-based imputation methods on family data has been subject to much less scrutiny. Here, we extensively compare several family- and population-based imputation methods on family data of large pedigrees with both European and African ancestry. Our comparison includes many widely used family- and population-based tools and another method, Ped_Pop, which co

SUBMITTER: Ullah E 

PROVIDER: S-EPMC6314157 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature