Disease risk estimates need more samples from more populations (Genome Biology)

Genetic disease risks can be misestimated across global populations

Michelle S. Kim, Kane P. Patel, Andrew K. Teng, Ali J. Berens, and Joseph Lachance

Genome Biology (Research article)

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Accurate assessment of health disparities requires unbiased knowledge of genetic risks in different populations. Unfortunately, most genome-wide association studies use genotyping arrays and European samples. Here, we integrate whole genome sequence data from global populations, results from thousands of genome-wide association studies (GWAS), and extensive computer simulations to identify how genetic disease risks can be misestimated. In contrast to null expectations, we find that risk allele frequencies at known disease loci are significantly different for African populations compared to other continents. 


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