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理解多基因模型、它们的发展以及多基因评分在医疗保健中的潜在应用。

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.

机构信息

PHG Foundation, University of Cambridge, Cambridge, Cambridgeshire, UK

PHG Foundation, University of Cambridge, Cambridge, Cambridgeshire, UK.

出版信息

J Med Genet. 2020 Nov;57(11):725-732. doi: 10.1136/jmedgenet-2019-106763. Epub 2020 May 6.

Abstract

The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods of generating polygenic scores. This has been driven by the availability of larger data sets, primarily from genome-wide association studies and concomitant developments in statistical methodologies. Here we provide an overview of the methodological aspects of polygenic model construction. In addition, we consider the state of the field and implications for potential applications of polygenic scores for risk estimation within healthcare.

摘要

利用基因组信息更好地理解和预防常见的复杂疾病一直是遗传研究的一个持续目标。在过去的几年中,该领域的研究呈爆炸式增长,提出了几种生成多基因分数的方法。这主要是由于更大数据集的可用性,这些数据集主要来自全基因组关联研究和统计方法学的相应发展。在这里,我们提供了多基因模型构建方法学方面的概述。此外,我们还考虑了该领域的现状及其对多基因分数在医疗保健中进行风险估计的潜在应用的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffae/7591711/71b2427f486c/jmedgenet-2019-106763f01.jpg

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