Meta-Analysis of Common and Rare Variants

  • Kyriaki MichailidouEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1793)


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.

Key words

Meta-analysis Common variants Rare variants Aggregation analysis Single variant analysis GWAS NGS 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Electron Microscopy/Molecular PathologyThe Cyprus Institute of Neurology and GeneticsNicosiaCyprus

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