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利用基因型数据进行疾病风险预测的统计方法

Statistical Methods for Disease Risk Prediction with Genotype Data.

作者信息

Xia Xiaoxuan, Zhang Yexian, Wei Yingying, Wang Maggie Haitian

机构信息

JC School of Public Health and Primary Care, the Chinese University of Hong Kong (CUHK), Shatin, Hong Kong.

Department of Statistics, the Chinese University of Hong Kong (CUHK), Shatin, Hong Kong.

出版信息

Methods Mol Biol. 2023;2629:331-347. doi: 10.1007/978-1-0716-2986-4_15.

DOI:10.1007/978-1-0716-2986-4_15
PMID:36929084
Abstract

Single-nucleotide polymorphism (SNP) is the basic unit to understand the heritability of complex traits. One attractive application of the susceptible SNPs is to construct prediction models for assessing disease risk. Here, we introduce prediction methods for human traits using SNPs data, including the polygenic risk score (PRS), linear mixed models (LMMs), penalized regressions, and methods for controlling population stratification.

摘要

单核苷酸多态性(SNP)是理解复杂性状遗传力的基本单位。易感SNP的一个有吸引力的应用是构建用于评估疾病风险的预测模型。在这里,我们介绍使用SNP数据预测人类性状的方法,包括多基因风险评分(PRS)、线性混合模型(LMM)、惩罚回归以及控制群体分层的方法。

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本文引用的文献

1
Development and Validation of a Polygenic Risk Score for Stroke in the Chinese Population.中文人群中风的多基因风险评分的建立与验证。
Neurology. 2021 Aug 10;97(6):e619-e628. doi: 10.1212/WNL.0000000000012263. Epub 2021 May 24.
2
A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits.利用多基因性状的遗传相关性进行跨人群性状预测的统一框架。
Am J Hum Genet. 2021 Apr 1;108(4):632-655. doi: 10.1016/j.ajhg.2021.03.002. Epub 2021 Mar 25.
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Improving reporting standards for polygenic scores in risk prediction studies.
提高风险预测研究中多基因评分报告标准。
Nature. 2021 Mar;591(7849):211-219. doi: 10.1038/s41586-021-03243-6. Epub 2021 Mar 10.
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Negative selection on complex traits limits phenotype prediction accuracy between populations.复杂性状的负选择限制了不同人群之间的表型预测准确性。
Am J Hum Genet. 2021 Apr 1;108(4):620-631. doi: 10.1016/j.ajhg.2021.02.013. Epub 2021 Mar 9.
5
A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank.一种快速且可扩展的大规模超高维稀疏回归框架及其在 UK Biobank 中的应用。
PLoS Genet. 2020 Oct 23;16(10):e1009141. doi: 10.1371/journal.pgen.1009141. eCollection 2020 Oct.
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Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers.多基因和临床风险评分及其对发病年龄和心血管代谢疾病及常见癌症预测的影响。
Nat Med. 2020 Apr;26(4):549-557. doi: 10.1038/s41591-020-0800-0. Epub 2020 Apr 7.
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Predictive Accuracy of a Polygenic Risk Score-Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease.多基因风险评分增强预测模型与临床风险评分对冠状动脉疾病预测的准确性比较。
JAMA. 2020 Feb 18;323(7):636-645. doi: 10.1001/jama.2019.22241.
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Variable prediction accuracy of polygenic scores within an ancestry group.群体内多基因评分的预测准确性存在差异。
Elife. 2020 Jan 30;9:e48376. doi: 10.7554/eLife.48376.
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A brief history of human disease genetics.人类疾病遗传学简史。
Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8.
10
Towards clinical utility of polygenic risk scores.迈向多基因风险评分的临床应用。
Hum Mol Genet. 2019 Nov 21;28(R2):R133-R142. doi: 10.1093/hmg/ddz187.