Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits.
Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits.
复制标题
与复杂性状相关的稀有变异的分析和解释方法。
DOI：
10.1002/cphg.83
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发表时间：
2019
影响因子：
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通讯作者：
Liu,DajiangJ
中科院分区：
文献类型：
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作者：
Weissenkampen,JDylan;Jiang,Yu;Eckert,Scott;Jiang,Bibo;Li,Bingshan;Liu,DajiangJ
随着下一代测序（NGS）技术的出现，全基因组和全外显子组DNA测序已成为常规遗传学研究的负担得起的。再加上改进的基因分型阵列和基因型插补方法，在大型数据集中获得罕见的遗传变异信息变得越来越可行。这些数据集使研究人员能够更全面地了解由罕见变异引起的复杂性状的遗传结构。本文综述了基于序列关联的统计遗传学分析的最新统计方法，包括生物库规模数据集关联分析的有效算法、基因关联检验、Meta分析、整合功能基因组数据集的精细作图方法和全表型关联研究（PheWAS）。这些方法预计将在精准医学时代的下一代统计遗传学分析中非常有用。John Wiley & Sons，Inc._关于我们
With the advent of Next Generation Sequencing (NGS) technologies, whole genome and whole exome DNA sequencing has become affordable for routine genetic studies. Coupled with improved genotyping arrays and genotype imputation methodologies, it is increasingly feasible to obtain rare genetic variant information in large datasets. Such datasets allow researchers to gain a more complete understanding of the genetic architecture of complex traits caused by rare variants. State‐of‐the‐art statistical methods for the statistical genetics analysis of sequence‐based association, including efficient algorithms for association analysis in biobank‐scale datasets, gene‐association tests, meta‐analysis, fine mapping methods that integrate functional genomic dataset, and phenome‐wide association studies (PheWAS), are reviewed here. These methods are expected to be highly useful for next generation statistical genetics analysis in the era of precision medicine. © 2019 by John Wiley & Sons, Inc.