Kinpute: using identity by descent to improve genotype imputation.

ABSTRACT: MOTIVATION:Genotype imputation, though generally accurate, often results in many genotypes being poorly imputed, particularly in studies where the individuals are not well represented by standard reference panels. When individuals in the study share regions of the genome identical by descent (IBD), it is possible to use this information in combination with a study-specific reference panel (SSRP) to improve the imputation results. Kinpute uses IBD information-due to recent, familial relatedness or distant, unknown ancestors-in conjunction with the output from linkage disequilibrium (LD) based imputation methods to compute more accurate genotype probabilities. Kinpute uses a novel method for IBD imputation, which works even in the absence of a pedigree, and results in substantially improved

SUBMITTER: Abney M 

PROVIDER: S-EPMC6821425 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature