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多基因风险评分提高临床试验成本和效率的潜力。

The potential of polygenic scores to improve cost and efficiency of clinical trials.

机构信息

Division of Cardiology and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.

出版信息

Nat Commun. 2022 May 25;13(1):2922. doi: 10.1038/s41467-022-30675-z.

DOI:10.1038/s41467-022-30675-z
PMID:35614072
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9132885/
Abstract

Polygenic scores can identify individuals with high disease risk based on inborn DNA variation. We explore their potential to enrich clinical trials by identifying individuals based on higher risk of disease (‘prognostic enrichment’), or increased probability of benefit (‘predictive enrichment’).

摘要

基于先天的 DNA 变异,多基因评分可以识别具有高疾病风险的个体。我们探讨了它们通过基于更高的疾病风险(“预后富集”)或增加的获益可能性(“预测富集”)来识别个体,从而丰富临床试验的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a5/9132885/dd24d17e4f6b/41467_2022_30675_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a5/9132885/dd24d17e4f6b/41467_2022_30675_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a5/9132885/dd24d17e4f6b/41467_2022_30675_Fig1_HTML.jpg

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