Last updated: 2024-09-16

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Knit directory: rss-gsea/

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Input data

Results below were generated from the GWAS summary statistics published in the paper “Identification of Heart Rate-Associated Loci and Their Effects on Cardiac Conduction and Rhythm Disorders” (Nature Genetics, 2013). The summary data file is available at https://walker05.u.hpc.mssm.edu/.

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.


devtools::session_info()
─ Session info ───────────────────────────────────────────────────────────────
 setting  value
 version  R version 4.4.1 (2024-06-14)
 os       macOS Sonoma 14.6.1
 system   aarch64, darwin20
 ui       X11
 language (EN)
 collate  en_US.UTF-8
 ctype    en_US.UTF-8
 tz       America/Los_Angeles
 date     2024-09-16
 pandoc   3.1.11 @ /Applications/RStudio.app/Contents/Resources/app/quarto/bin/tools/aarch64/ (via rmarkdown)

─ Packages ───────────────────────────────────────────────────────────────────
 package     * version    date (UTC) lib source
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 [1] /Library/Frameworks/R.framework/Versions/4.4-arm64/Resources/library

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