Polygenic risk score in Africa populations: progress and challenges

Polygenic Risk Score (PRS) analysis is a method that predicts the genetic risk of an individual towards targeted traits. Even when there are no significant markers, it gives evidence of a genetic effect beyond the results of Genome-Wide Association Studies (GWAS). Moreover, it selects SNPs that contribute to the disease with low effect size making it more precise at individual level risk prediction. PRS analysis addresses the shortfall of GWAS by taking into account the SNPs/alleles with low effect size but play an indispensable role to the observed phenotypic/trait variance. PRS analysis has application which investigate the genetic basis of several traits which includes rare diseases. However, the accuracy of PRS analysis depends on the genomic data of the underlying population. For instance, several studies show that obtaining higher prediction power of PRS analysis is challenging for non-Europeans. In this manuscript, we reviewed the conventional PRS methods and their application to..., ,

多基因风险评分（Polygenic Risk Score, PRS）分析是一种用于预测个体针对特定性状的遗传风险的方法。即便未检出显著遗传标记，该方法仍可提供超越全基因组关联研究（Genome-Wide Association Studies, GWAS）结果的遗传效应佐证。此外，其可筛选出对疾病具有低效应量贡献的单核苷酸多态性（Single Nucleotide Polymorphisms, SNPs），进而在个体层面实现更为精准的风险预测。PRS分析可弥补GWAS的不足：GWAS往往未纳入那些效应量较低，但对观测表型/性状变异具有不可或缺作用的SNPs/等位基因。PRS分析的应用范畴涵盖多种性状的遗传基础研究，其中亦包含罕见病。然而，PRS分析的准确性依赖于目标人群的基因组数据。例如，多项研究表明，针对非欧洲人群，提升PRS分析的预测效能仍颇具挑战。在本手稿中，我们综述了传统PRS分析方法及其在……中的应用,