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Front Genet. 2013 Dec 9;4:280. doi: 10.3389/fgene.2013.00280.

A review of post-GWAS prioritization approaches.

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  • 1Department of Biostatistics, Yale School of Public Health New Haven, CT, USA.


In the recent decade, high-throughput genotyping and next-generation sequencing platforms have enabled genome-wide association studies (GWAS) of many complex human diseases. These studies have discovered many disease susceptible loci, and unveiled unexpected disease mechanisms. Despite these successes, these identified variants only explain a small proportion of the genetic contributions to these diseases and many more remain to be found. This is largely due to the small effect sizes of most disease-associated variants and limited sample size. As a result, it is critical to leverage other information to more effectively prioritize GWAS signals to increase replication rates and better understand disease mechanisms. In this review, we introduce the biological/genomic features that have been found to be informative for post-GWAS prioritization, and discuss available tools to utilize these features for prioritization.


DNase I hypersensitive site; eQTL; genome-wide association studies; non-coding; prioritization

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