Bias Characterization in Probabilistic Genotype Data and Improved Signal Detection with Multiple Imputation.

ABSTRACT: Missing data are an unavoidable component of modern statistical genetics. Different array or sequencing technologies cover different single nucleotide polymorphisms (SNPs), leading to a complicated mosaic pattern of missingness where both individual genotypes and entire SNPs are sporadically absent. Such missing data patterns cannot be ignored without introducing bias, yet cannot be inferred exclusively from nonmissing data. In genome-wide association studies, the accepted solution to missingness is to impute missing data using external reference haplotypes. The resulting probabilistic genotypes may be analyzed in the place of genotype calls. A general-purpose paradigm, called Multiple Imputation (MI), is known to model uncertainty in many contexts, yet it is not widely used in association

SUBMITTER: Palmer C 

PROVIDER: S-EPMC4910998 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature