Last updated: 2021-10-26
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Rmd | db3c6f9 | Jing Gu | 2021-10-26 | test enrichment for asthma risk variants |
Caldero et al. 2019 - ATAC-Seq data for FACS-sorted cells from whole blood
I extracted ATAC-Seq peaks specific to each immune cell type from the count table that consists of a union set of peaks across cells based on the provided cutoffs.
This analysis was done to replicate the enrichment results from figure 5b in the paper. Overall, the magnitude of enrichment estimates are much smaller than that in figure 5b. I could not find their resouce of GWAS datase, but I believe that I used a different GWAS data set for RA. They claimed 20% per-SNP heritability for RA, while the dataset in 2014 I used only found 8% genome-wide heritability. They used LDSC to estimate enrichment estimates. The stimulated immune cells tend to have slightly higher enrichment estimates, but not as significant due to overlapped CIs. However, the figure in the paper demonstrates strong enrichment of stimulated-related peaks for cells such as Bulk B, naive B, CD8+ T and Th1.
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5b65bd1 | Jing Gu | 2021-10-26 |
For Asthma, we did not see stronger enrichment of stimulated-related peaks compared with resting ones. But overall all immune cells whether or not stimulated (except for the stimulated mature NK) are significantly enriched for GWAS risk variants.
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5b65bd1 | Jing Gu | 2021-10-26 |
A pair of annotations - stimulated and resting for each immune cell type was jointly tested for their enrichment of GWAS risk variants. We observed many cell types share GWAS association signals. Conditional on resting cells,there are five stimulated cell types still show enrichment including Naive B, Memory B, CD8+ T , Naive CD8+ T and Naive Tregs cells.
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5b65bd1 | Jing Gu | 2021-10-26 |
Caldero et al. 2019
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5b65bd1 | Jing Gu | 2021-10-26 |
sessionInfo()
R version 4.0.4 (2021-02-15)
Platform: x86_64-pc-linux-gnu (64-bit)
Running under: Scientific Linux 7.4 (Nitrogen)
Matrix products: default
BLAS/LAPACK: /software/openblas-0.3.13-el7-x86_64/lib/libopenblas_haswellp-r0.3.13.so
locale:
[1] LC_CTYPE=en_US.UTF-8 LC_NUMERIC=C
[3] LC_TIME=en_US.UTF-8 LC_COLLATE=en_US.UTF-8
[5] LC_MONETARY=en_US.UTF-8 LC_MESSAGES=en_US.UTF-8
[7] LC_PAPER=en_US.UTF-8 LC_NAME=C
[9] LC_ADDRESS=C LC_TELEPHONE=C
[11] LC_MEASUREMENT=en_US.UTF-8 LC_IDENTIFICATION=C
attached base packages:
[1] stats graphics grDevices utils datasets methods base
other attached packages:
[1] knitr_1.31 ggplot2_3.3.3 workflowr_1.6.2
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