Last updated: 2024-06-03

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Knit directory: multigroup_ctwas_analysis/

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Rmd dc11252 sq-96 2024-05-09 update single tissue simulation

This four expression traits simulation study is conducted to evaluate our new cTWAS software performance (parameter estimation, PIP calibration …). Four expression traits from PredictDB are used in this study, which are Liver, Adipose, Lung and stomach. Liver and Adipose are selected as causal tissues, each with 3% PVE and 0.9% prior. Lung and stomach are non-causal tissues with 0% PVE. Two types of LD between weight SNPs (calculating gene z score) are used and compared in this study. And their performance are very close because most genes only have one weight SNP.

Simulation 1: Expression trait in liver with 3% PVE and 0.9% Prior

Number of causal genes detected (GTEX LD)

  simutag ctwas_genes ctwas_cgenes twas_genes twas_cgenes total_cgenes
1     1-1          14           12        189          33          140
2     1-2          32           27        331          56          180
3     1-3          34           27        260          37          156
4     1-4           8            6        207          27          126
5     1-5          35           27        350          40          154
  ctwas_genes_combined ctwas_cgenes_combined total_cgenes_combined
1                   25                    24                   139
2                   43                    36                   178
3                   44                    35                   156
4                   14                    11                   126
5                   45                    37                   154

Number of causal genes detected (UKBB LD)

  simutag ctwas_genes ctwas_cgenes twas_genes twas_cgenes total_cgenes
1     1-1          13           12        189          33          140
2     1-2          26           23        327          57          180
3     1-3          25           24        255          37          156
4     1-4           6            6        207          26          126
5     1-5          33           26        351          40          154
  ctwas_genes_combined ctwas_cgenes_combined total_cgenes_combined
1                   24                    24                   139
2                   41                    36                   178
3                   34                    31                   156
4                   14                    11                   126
5                   42                    35                   154

Estimated Prior Inclusion Probability and PVE (GTEX LD)

Version Author Date
25b86f0 sq-96 2024-05-13
86da557 sq-96 2024-05-10
19c4b2c sq-96 2024-05-09

Estimated Prior Inclusion Probability and PVE (UKBB LD)

Version Author Date
25b86f0 sq-96 2024-05-13
86da557 sq-96 2024-05-10
19c4b2c sq-96 2024-05-09

PIP attribution among tissues (UKBBLD)

Version Author Date
63d9123 sq-96 2024-05-16
914e869 sq-96 2024-05-16
a0efc0d sq-96 2024-05-16
19c4b2c sq-96 2024-05-09

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

Version Author Date
5c4ca00 sq-96 2024-06-03
96c8290 sq-96 2024-06-02
3426089 sq-96 2024-05-16
63d9123 sq-96 2024-05-16
914e869 sq-96 2024-05-16
a0efc0d sq-96 2024-05-16
19c4b2c sq-96 2024-05-09

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

Version Author Date
5c4ca00 sq-96 2024-06-03
96c8290 sq-96 2024-06-02
3426089 sq-96 2024-05-16
a0efc0d sq-96 2024-05-16
19c4b2c sq-96 2024-05-09

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

Version Author Date
3426089 sq-96 2024-05-16
a0efc0d sq-96 2024-05-16
25b86f0 sq-96 2024-05-13

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

Version Author Date
a0efc0d 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