The hazards of genotype imputation when mapping disease susceptibility variants.
Winston LauAminah AliHannah MaudeToby AndrewDallas M SwallowNikolas ManiatisPublished in: Genome biology (2024)
Imputation is not a panacea for fine mapping, nor for meta-analysing multiple GWAS based on different arrays and different populations. A total of 80% of the SNPs we have tested are not included in array platforms, explaining why these and other such associated variants may previously have been missed. Regardless of the choice of software and reference haplotypes, imputation drives genotype inference towards the reference panel, introducing errors at disease loci.