Enrichment results of packed cell volume
Xiang Zhu
2017-04-12
Last updated: 2024-09-16
Checks: 7 0
Knit directory: rss-gsea/
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Input data
Results below were generated from the GWAS summary statistics published in the paper “Seventy-Five Genetic Loci Influencing the Human Red Blood Cell” (Nature, 2012). The summary data file is available from the European Genome–Phenome Archive (EGA, http://www.ebi.ac.uk/ega) under accession number EGAS00000000132.
Analysis results
Enrichment analyses are summarized by the following three quantities.
- BF: Bayes factor comparing the enrichment model against the baseline model;
- Outside \(\pi\): proportion of trait-associated SNPs that are “outside” the gene set;
- Inside \(\pi\): proportion of trait-associated SNPs that are “inside” the gene set.
The first quantity reflects the significance of enrichment, whereas the last two capture the magnitude of enrichment. For each gene set, we report these three quantities in the last three columns of tables below, on log 10 scale.
Biological pathways
Tissue highly expressed genes
Tissue selectively expressed genes
Cluster distinctively expressed genes
The relationship between tissues and clusters is shown in Figure 1 of Dey et al. (2017); see below.
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