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Exploring genetic diversity in genome-wide association studies and polygenic risk scores in the admixed Brazilian
Miriam Coelho Molck1,2, Luciano Henrique Braz Dos Santos1,2, Thais C de Oliveira1,2
1Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Genética Médica e Medicina Genômica, Campinas, SP, Brazil.
Abstract:
The Brazilian population has a complex genetic background resulting from admixture of Native American, African, and European ancestries. This review examines how such diversity influences the findings of genome-wide association studies and the performance of polygenic risk score. It also highlights the role of admixture in elucidating the genetic basis of complex diseases, and addresses key methodological challenges, including population stratification and limited representation in genomic databases. Furthermore, it evaluates the transferability of risk models developed in other populations. The review underscores the need for inclusive research strategies to improve the accuracy and relevance of genomic predictions for precision medicine worldwide.
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