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相关样本中复杂性状的全基因组和测序关联研究的统计方法。

Statistical methods for genome-wide and sequencing association studies of complex traits in related samples.

作者信息

Thornton Timothy A

机构信息

Department of Biostatistics, University of Washington, Seattle, Washington.

出版信息

Curr Protoc Hum Genet. 2015 Jan 20;84:1.28.1-1.28.9. doi: 10.1002/0471142905.hg0128s84.

DOI:10.1002/0471142905.hg0128s84
PMID:25599666
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4327940/
Abstract

Genome-wide association studies (GWAS) and sequencing studies are routinely conducted for the identification of genetic variants that are associated with complex traits. Many genetic studies for association mapping include related individuals. When relatives are included in an association analysis, familial correlations must be appropriately taken into account to ensure correct type I error and to increase power. This unit provides an overview of statistical methods that are available for GWAS and sequencing association studies of complex traits in samples with related individuals.

摘要

全基因组关联研究(GWAS)和测序研究经常用于识别与复杂性状相关的基因变异。许多关联定位的基因研究都纳入了亲属个体。当在关联分析中纳入亲属时,必须适当考虑家族相关性,以确保正确的I型错误率并提高检验效能。本单元概述了可用于对包含亲属个体的样本进行复杂性状的GWAS和测序关联研究的统计方法。

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本文引用的文献

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Comparison of methods to account for relatedness in genome-wide association studies with family-based data.在基于家系数据的全基因组关联研究中考虑亲缘关系的方法比较。
PLoS Genet. 2014 Jul 17;10(7):e1004445. doi: 10.1371/journal.pgen.1004445. eCollection 2014 Jul.
2
Advantages and pitfalls in the application of mixed-model association methods.混合模型关联方法应用的优缺点。
Nat Genet. 2014 Feb;46(2):100-6. doi: 10.1038/ng.2876.
3
Robust rare variant association testing for quantitative traits in samples with related individuals.在有相关个体的样本中进行稳健的罕见变异关联测试,用于定量性状。
Genet Epidemiol. 2014 Jan;38(1):10-20. doi: 10.1002/gepi.21775. Epub 2013 Nov 18.
4
Fine-scale patterns of population stratification confound rare variant association tests.人群分层的精细模式使稀有变异关联测试产生混淆。
PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013.
5
Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured data.基于家系或群体结构数据的连锁和核方法进行多重遗传变异关联测试。
Genet Epidemiol. 2013 Jul;37(5):409-18. doi: 10.1002/gepi.21727. Epub 2013 May 5.
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MASTOR: mixed-model association mapping of quantitative traits in samples with related individuals.MASTOR:用于相关个体样本中定量性状混合模型关联作图的方法。
Am J Hum Genet. 2013 May 2;92(5):652-66. doi: 10.1016/j.ajhg.2013.03.014.
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Sequence kernel association test for quantitative traits in family samples.基于家系样本的数量性状序列核关联检验。
Genet Epidemiol. 2013 Feb;37(2):196-204. doi: 10.1002/gepi.21703. Epub 2012 Dec 26.
8
Rapid variance components-based method for whole-genome association analysis.基于快速方差成分的全基因组关联分析方法。
Nat Genet. 2012 Oct;44(10):1166-70. doi: 10.1038/ng.2410. Epub 2012 Sep 16.
9
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.最优统一方法用于罕见变异关联测试及其在小样本病例对照全外显子测序研究中的应用。
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10
Genome-wide efficient mixed-model analysis for association studies.全基因组高效混合模型关联分析。
Nat Genet. 2012 Jun 17;44(7):821-4. doi: 10.1038/ng.2310.