Last updated: 2024-05-16

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Knit directory: multigroup_ctwas_analysis/

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Rmd 6e35c53 sq-96 2024-05-16 update
html 6e35c53 sq-96 2024-05-16 update
Rmd 914e869 sq-96 2024-05-16 update
Rmd a0efc0d sq-96 2024-05-16 update
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Rmd dc11252 sq-96 2024-05-09 update single tissue simulation

A simulation of expression and splicing traits from three tissues is conducted to evaluate cTWAS performance (parameter estimation, PIP calibration …). Three tissues used in this simulation are Liver, Adipose and Lung. Only expression and splicing from liver are causal, each with 3% PVE, 0.9% \(\pi\). SNPs have 30% PVE, 2.5e-4 \(\pi\).

Simulation 1: Expression and Splicing from Liver (3% PVE)

Number of causal genes detected (GTEX LD)

  simutag ctwas_genes ctwas_cgenes twas_genes twas_cgenes total_cgenes
1     1-1          31           19        629          41          198
2     1-2          19           11        441          27          191
3     1-3          21           20        786          36          197
4     1-4          24           17        751          44          181
5     1-5          23           15        534          34          203
  ctwas_genes_combined ctwas_cgenes_combined total_cgenes_combined
1                   34                    21                   198
2                   20                    13                   191
3                   21                    20                   197
4                   26                    19                   181
5                   28                    21                   203

Number of causal genes detected (UKBB LD)

  simutag ctwas_genes ctwas_cgenes twas_genes twas_cgenes total_cgenes
1     1-1          23           20        621          41          198
2     1-2          17           15        440          28          191
3     1-3          21           20        781          35          197
4     1-4          22           16        749          44          181
5     1-5          14           12        530          34          203
  ctwas_genes_combined ctwas_cgenes_combined total_cgenes_combined
1                   25                    21                   198
2                   18                    16                   191
3                   21                    20                   197
4                   24                    18                   181
5                   24                    21                   203

Estimated Prior Inclusion Probability and PVE (GTEX LD)

Version Author Date
6e35c53 sq-96 2024-05-16
86da557 sq-96 2024-05-10

Estimated Prior Inclusion Probability and PVE (UKBB LD)

Version Author Date
6e35c53 sq-96 2024-05-16

PIP attribution among tissues by QTL types (UKBBLD)

Version Author Date
6e35c53 sq-96 2024-05-16

PIP Calibration Plot based on GTEX LD (filter out cs index 0)

Version Author Date
6e35c53 sq-96 2024-05-16

PIP Calibration Plot of expression traits (filter out cs index 0)

Version Author Date
6e35c53 sq-96 2024-05-16

PIP Calibration Plot of expression traits with region merge (filter out cs index 0)

Version Author Date
6e35c53 sq-96 2024-05-16

PIP Calibration Plot of gene level PIP (filter out cs index 0)

Version Author Date
6e35c53 sq-96 2024-05-16

PIP Calibration Plot of gene level PIP with region merge (filter out cs index 0)

Version Author Date
6e35c53 sq-96 2024-05-16

sessionInfo()
R version 4.2.0 (2022-04-22)
Platform: x86_64-pc-linux-gnu (64-bit)
Running under: CentOS Linux 7 (Core)

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] dplyr_1.1.4       plyr_1.8.7        plotrix_3.8-2     cowplot_1.1.1    
[5] ggpubr_0.6.0      ggplot2_3.4.4     data.table_1.14.2 ctwas_0.2.1.9000 
[9] workflowr_1.7.0  

loaded via a namespace (and not attached):
  [1] colorspace_2.0-3            ggsignif_0.6.3             
  [3] rjson_0.2.21                ellipsis_0.3.2             
  [5] rprojroot_2.0.3             XVector_0.36.0             
  [7] locuszoomr_0.3.0            GenomicRanges_1.48.0       
  [9] fs_1.5.2                    rstudioapi_0.14            
 [11] farver_2.1.1                ggrepel_0.9.4              
 [13] bit64_4.0.5                 AnnotationDbi_1.58.0       
 [15] fansi_1.0.3                 xml2_1.3.3                 
 [17] codetools_0.2-18            logging_0.10-108           
 [19] cachem_1.0.6                knitr_1.40                 
 [21] jsonlite_1.8.8              Rsamtools_2.12.0           
 [23] broom_1.0.5                 dbplyr_2.5.0               
 [25] png_0.1-7                   compiler_4.2.0             
 [27] httr_1.4.4                  backports_1.4.1            
 [29] Matrix_1.5-3                fastmap_1.1.0              
 [31] lazyeval_0.2.2              cli_3.6.1                  
 [33] later_1.3.0                 htmltools_0.5.3            
 [35] prettyunits_1.1.1           tools_4.2.0                
 [37] gtable_0.3.1                glue_1.6.2                 
 [39] GenomeInfoDbData_1.2.8      rappdirs_0.3.3             
 [41] Rcpp_1.0.9                  carData_3.0-5              
 [43] Biobase_2.56.0              jquerylib_0.1.4            
 [45] vctrs_0.6.4                 Biostrings_2.64.0          
 [47] rtracklayer_1.56.0          xfun_0.32                  
 [49] stringr_1.5.0               ps_1.7.1                   
 [51] irlba_2.3.5                 lifecycle_1.0.4            
 [53] restfulr_0.0.14             ensembldb_2.20.2           
 [55] rstatix_0.7.2               XML_3.99-0.14              
 [57] getPass_0.2-2               zlibbioc_1.42.0            
 [59] zoo_1.8-10                  scales_1.2.1               
 [61] gggrid_0.2-0                hms_1.1.2                  
 [63] promises_1.2.0.1            MatrixGenerics_1.8.0       
 [65] ProtGenerics_1.28.0         parallel_4.2.0             
 [67] SummarizedExperiment_1.26.1 AnnotationFilter_1.20.0    
 [69] LDlinkR_1.4.0               yaml_2.3.5                 
 [71] curl_4.3.2                  gridExtra_2.3              
 [73] memoise_2.0.1               sass_0.4.2                 
 [75] biomaRt_2.52.0              stringi_1.7.8              
 [77] RSQLite_2.2.14              highr_0.9                  
 [79] S4Vectors_0.34.0            BiocIO_1.6.0               
 [81] GenomicFeatures_1.48.3      BiocGenerics_0.42.0        
 [83] filelock_1.0.2              BiocParallel_1.30.3        
 [85] GenomeInfoDb_1.32.2         rlang_1.1.1                
 [87] pkgconfig_2.0.3             matrixStats_0.62.0         
 [89] bitops_1.0-7                evaluate_0.16              
 [91] lattice_0.20-45             purrr_1.0.2                
 [93] labeling_0.4.2              GenomicAlignments_1.32.0   
 [95] htmlwidgets_1.5.4           bit_4.0.4                  
 [97] processx_3.7.0              tidyselect_1.2.1           
 [99] magrittr_2.0.3              R6_2.5.1                   
[101] IRanges_2.30.0              generics_0.1.3             
[103] DelayedArray_0.22.0         DBI_1.1.3                  
[105] withr_2.5.0                 pgenlibr_0.3.2             
[107] pillar_1.9.0                whisker_0.4                
[109] abind_1.4-5                 mixsqp_0.3-48              
[111] KEGGREST_1.36.2             RCurl_1.98-1.7             
[113] tibble_3.2.1                car_3.1-1                  
[115] crayon_1.5.1                utf8_1.2.2                 
[117] BiocFileCache_2.4.0         plotly_4.10.0              
[119] rmarkdown_2.16              progress_1.2.2             
[121] grid_4.2.0                  blob_1.2.3                 
[123] callr_3.7.2                 git2r_0.30.1               
[125] digest_0.6.29               tidyr_1.3.1                
[127] httpuv_1.6.5                stats4_4.2.0               
[129] munsell_0.5.0               viridisLite_0.4.1          
[131] bslib_0.4.0