Genetic disease risks can be misestimated across global populations

Table 1 Differences in allele frequencies between African and European populations for different genotyping technologies

Data type	Allele frequency difference between Africa and Europe
Data type	Ancestral risk allele (%)	Derived risk allele (%)
NHGRI-EBI GWAS Catalog (empirical)	+ 11.7	− 6.7
Affymetrix Genome-Wide Human SNP Array 6.0 (simulated)*	+ 10.7	− 8.0
Illumina Omni 5M microarray (simulated)*	+ 11.0	− 8.2
Whole genome sequences (simulated)*	+ 9.7	− 7.2

*GWAS simulation parameters: sample size = 3500 cases and 3500 controls, study population = EUR, p value threshold = 1 × 10⁻⁵, mode of inheritance = additive, prevalence = 0.1, genotype relative risk = 1.211

ISSN: 1474-760X