Data Integration, Imputation, and Meta-analysis for Genome-Wide Association Studies

Abstract

Growing genomic and phenotypic datasets require different groups around the world to collaborate and integrate these valuable resources to maximize their benefit and increase reference population sizes for genomic prediction and genome-wide association studies (GWAS). However, different studies use different genotyping techniques which requires a synchronizing step for the genotyped variants called "imputation" before combining them. Optimally, different GWAS datasets can be analysed within a meta-analysis, which recruits summary statistics instead of actual data. This chapter describes the general principles for genotypic imputation and meta-GWAS analysis with a description of study designs and command lines required for such analyses.

Keywords: Accuracy; Data integration; GWAS; Imputation; Meta-analysis; Missing data imputation; metaGWAS.