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常见变异与罕见变异的荟萃分析

Meta-Analysis of Common and Rare Variants.

作者信息

Michailidou Kyriaki

机构信息

Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

出版信息

Methods Mol Biol. 2018;1793:73-88. doi: 10.1007/978-1-4939-7868-7_6.

Abstract

Meta-analysis is a statistical technique that is widely used for improving the power to detect associations, by synthesizing data from independent studies, and is extensively used in the genomic analyses of complex traits. Estimates from different studies are combined and the results effectively provide the power of a much larger study. Meta-analysis also has the potential of discovering heterogeneity in the effects among the different studies. This chapter provides an overview of the methods used for meta-analysis of common and rare single variants and also for gene/region-based analyses; common variants are mainly identified via genome-wide association studies (GWAS) and rare variants through various types of sequencing experiments.

摘要

荟萃分析是一种统计技术,通过综合来自独立研究的数据,广泛用于提高检测关联的效能,并且在复杂性状的基因组分析中被广泛应用。来自不同研究的估计值被合并,其结果有效地提供了一个规模大得多的研究的效能。荟萃分析还有发现不同研究间效应异质性的潜力。本章概述了用于常见和罕见单变体荟萃分析以及基于基因/区域分析的方法;常见变体主要通过全基因组关联研究(GWAS)鉴定,罕见变体则通过各种类型的测序实验鉴定。

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