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Chunk #20 — PART 1: EMPIRICAL APPRAISAL OF PUBLISHED GWA META-ANALYSES — 1.2. RESULTS

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The power of meta-analysis in genome-wide association studies.
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Table 2 describes the 45 GWA reports where at least one type of functional work accompanying the respective meta-analyses had been performed in the same paper where the GWA meta-analysis was published. Expression quantitative trait loci (eQTL) analyses were the most common type of functional testing (mentioned in 26 reports). Other expression analyses included gene expression (n=19 reports) and RNA expression (n=2). Animal models (50) had been used in 9 reports and pathway analyses in another 13. Three reports had investigated protein-protein interactions for the products of discovered gene loci. Examination of the relationships between genes in different diseases using GRAIL (Gene Relationships Across Implicated Loci) analysis (82) was included in 8 reports, while the role of coding variation in the respective loci was listed in another 8 reports. Finally, other reported functional tests included analyses using the Online Mendelian Inheritance in Man (OMIM) database (n=3 reports); gene-interactions and gene ontology (n=2 reports for each); gene-environment interactions, DNA methylation, mutation analysis, and transcript profiling (n=1 report for each). 28 reports (62%) reported more than 1 functional analysis; 15 (33%) reported