Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
Department of Biology, Brigham Young University, Provo, UT, USA.
Commun Biol. 2022 Sep 2;5(1):899. doi: 10.1038/s42003-022-03795-x.
The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu ) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer's Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.
确定合适的全基因组关联 (GWA) 研究并对数据进行格式化以在单个基因组上计算多个多基因风险评分的过程可能很繁琐。在这里,我们介绍了一个集中的多基因风险评分计算器,目前包含来自 NHGRI-EBI GWAS Catalog 的超过 250,000 个遗传变异关联,供用户轻松计算样本特异性多基因风险评分,其结果可与其他可用工具相媲美。多基因风险评分可以通过 Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) 在线计算,也可以通过命令行界面计算。我们报告了 UK Biobank、1000 Genomes 和 Alzheimer's Disease Neuroimaging Initiative (ADNI) 中的特定研究的多基因风险评分,对计算出的评分进行了背景分析,并确定了 ADNI 中潜在的混杂遗传风险因素。我们引入了一个简化的分析工具和网络界面,可在各种研究中计算和分析多基因风险评分,我们预计这将促进多基因风险评分在未来疾病研究中的更广泛应用。