Iam hiQ-a novel pair of accuracy indices for imputed genotypes.

ABSTRACT:

Background

Imputation of untyped markers is a standard tool in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy with which genotypes are imputed is fundamental. Several accuracy measures have been proposed and some are implemented in imputation software, unfortunately diversely across platforms. In the present paper, we introduce Iam hiQ, an independent pair of accuracy measures that can be applied to dosage files, the output of all imputation software. Iam (imputation accuracy measure) quantifies the average amount of individual-specific versus population-specific genotype information in a linear manner. hiQ (heterogeneity in quantities of dosages) addresses the inter-individual heterogeneity between d

SUBMITTER: Rosenberger A 

PROVIDER: S-EPMC8785528 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature