这篇研究文章探讨了基于电子健康记录(EHR)的表型风险评分(PheRS)与多基因评分(PGS)在预测疾病发病风险方面的可推广性和准确性。研究人员利用芬兰(FinnGen)、英国(UKB)和爱沙尼亚(EstB)三个生物样本库的超过八十万个体数据,构建并比较了预测 13 种常见疾病发病风险的模型。关键发现表明,PheRS 模型在不同医疗系统之间具有良好的通用性,并且与 PGS 捕获了大致独立的信息,将两者结合使用可以提高疾病风险预测的准确性。文章讨论了 EHR 数据作为预测工具的优势和挑战,特别是其与遗传数据相结合以改善疾病早期干预的潜力。References: Detrois K E, Hartonen T, Teder-Laving M, et al. Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores[J]. Nature Genetics, 2025: 1-10.
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