Import data

To get the full dataset of all fine-mapped Parkinson’s Disease loci, you can use the following function:

merged_DT <- echodata::get_Nalls2019_merged()

Annotate

Annotate SNP-wise fine-mapping results.

Here, we’re only annotating a small number of SNPs high-confidence causal SNPs for demo purposes. The more SNPs you supply to annotate_snps, the longer it will take to query the selected databases for each SNP.

#### Only query high-confidence fine-mapping SNPs from one locus ####
dat <- merged_DT[Locus=="LRRK2" & Consensus_SNP==TRUE,]
#### Query annotations ####
dat_annot <- echoannot::annotate_snps(dat = dat,
                                      haploreg_annotation = TRUE, 
                                      regulomeDB_annotation = TRUE,
                                      biomart_annotation = TRUE) 
knitr::kable(dat_annot)

Summary plots

Credible Set bin plot

gg_cs_bin <- echoannot::CS_bin_plot(merged_DT = merged_DT,
                                    show_plot = FALSE)

Credible Set counts plot

gg_cs_counts <- echoannot::CS_counts_plot(merged_DT = merged_DT, 
                                          show_plot = FALSE)

Epigenomic data

gg_epi <- echoannot::peak_overlap_plot(
    merged_DT = merged_DT, 
    include.NOTT2019_enhancers_promoters = TRUE,
    include.NOTT2019_PLACseq = TRUE,
    #### Omit many annotations to save time ####
    include.NOTT2019_peaks = FALSE,
    include.CORCES2020_scATACpeaks = FALSE, 
    include.CORCES2020_Cicero_coaccess = FALSE, 
    include.CORCES2020_bulkATACpeaks = FALSE, 
    include.CORCES2020_HiChIP_FitHiChIP_coaccess = FALSE,
    include.CORCES2020_gene_annotations = FALSE)

Super summary plot

Creates one big merged plot using the subfunctions above.

super_plot <- echoannot::super_summary_plot(merged_DT = merged_DT, 
                                            plot_missense = FALSE)

Session Info

utils::sessionInfo()
## R Under development (unstable) (2026-03-12 r89607)
## Platform: x86_64-pc-linux-gnu
## Running under: Ubuntu 24.04.4 LTS
## 
## Matrix products: default
## BLAS:   /usr/lib/x86_64-linux-gnu/openblas-pthread/libblas.so.3 
## LAPACK: /usr/lib/x86_64-linux-gnu/openblas-pthread/libopenblasp-r0.3.26.so;  LAPACK version 3.12.0
## 
## 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       
## 
## time zone: UTC
## tzcode source: system (glibc)
## 
## attached base packages:
## [1] stats     graphics  grDevices utils     datasets  methods   base     
## 
## other attached packages:
## [1] echoannot_1.0.1  BiocStyle_2.39.0
## 
## loaded via a namespace (and not attached):
##   [1] aws.s3_0.3.22               BiocIO_1.21.0              
##   [3] bitops_1.0-9                filelock_1.0.3             
##   [5] tibble_3.3.1                R.oo_1.27.1                
##   [7] cellranger_1.1.0            basilisk.utils_1.23.1      
##   [9] graph_1.89.1                XML_3.99-0.22              
##  [11] rpart_4.1.24                lifecycle_1.0.5            
##  [13] OrganismDbi_1.53.2          ensembldb_2.35.0           
##  [15] lattice_0.22-9              MASS_7.3-65                
##  [17] backports_1.5.0             magrittr_2.0.4             
##  [19] openxlsx_4.2.8.1            Hmisc_5.2-5                
##  [21] sass_0.4.10                 rmarkdown_2.30             
##  [23] jquerylib_0.1.4             yaml_2.3.12                
##  [25] otel_0.2.0                  zip_2.3.3                  
##  [27] reticulate_1.45.0           ggbio_1.59.0               
##  [29] gld_2.6.8                   DBI_1.3.0                  
##  [31] RColorBrewer_1.1-3          abind_1.4-8                
##  [33] expm_1.0-0                  GenomicRanges_1.63.1       
##  [35] purrr_1.2.1                 R.utils_2.13.0             
##  [37] AnnotationFilter_1.35.0     biovizBase_1.59.0          
##  [39] BiocGenerics_0.57.0         RCurl_1.98-1.17            
##  [41] nnet_7.3-20                 VariantAnnotation_1.57.1   
##  [43] IRanges_2.45.0              S4Vectors_0.49.0           
##  [45] pkgdown_2.2.0               echodata_1.0.0             
##  [47] piggyback_0.1.5             codetools_0.2-20           
##  [49] DelayedArray_0.37.0         DT_0.34.0                  
##  [51] xml2_1.5.2                  tidyselect_1.2.1           
##  [53] UCSC.utils_1.7.1            farver_2.1.2               
##  [55] matrixStats_1.5.0           stats4_4.6.0               
##  [57] base64enc_0.1-6             Seqinfo_1.1.0              
##  [59] echotabix_1.0.1             GenomicAlignments_1.47.0   
##  [61] jsonlite_2.0.0              e1071_1.7-17               
##  [63] Formula_1.2-5               systemfonts_1.3.2          
##  [65] tools_4.6.0                 ragg_1.5.1                 
##  [67] DescTools_0.99.60           Rcpp_1.1.1                 
##  [69] glue_1.8.0                  gridExtra_2.3              
##  [71] SparseArray_1.11.11         xfun_0.56                  
##  [73] MatrixGenerics_1.23.0       GenomeInfoDb_1.47.2        
##  [75] dplyr_1.2.0                 withr_3.0.2                
##  [77] BiocManager_1.30.27         fastmap_1.2.0              
##  [79] basilisk_1.23.0             boot_1.3-32                
##  [81] digest_0.6.39               R6_2.6.1                   
##  [83] textshaping_1.0.5           colorspace_2.1-2           
##  [85] dichromat_2.0-0.1           RSQLite_2.4.6              
##  [87] cigarillo_1.1.0             R.methodsS3_1.8.2          
##  [89] tidyr_1.3.2                 generics_0.1.4             
##  [91] data.table_1.18.2.1         rtracklayer_1.71.3         
##  [93] class_7.3-23                httr_1.4.8                 
##  [95] htmlwidgets_1.6.4           S4Arrays_1.11.1            
##  [97] pkgconfig_2.0.3             gtable_0.3.6               
##  [99] Exact_3.3                   blob_1.3.0                 
## [101] S7_0.2.1                    XVector_0.51.0             
## [103] echoconda_1.0.0             htmltools_0.5.9            
## [105] bookdown_0.46               RBGL_1.87.0                
## [107] ProtGenerics_1.43.0         scales_1.4.0               
## [109] Biobase_2.71.0              lmom_3.2                   
## [111] png_0.1-8                   knitr_1.51                 
## [113] rstudioapi_0.18.0           tzdb_0.5.0                 
## [115] reshape2_1.4.5              rjson_0.2.23               
## [117] checkmate_2.3.4             curl_7.0.0                 
## [119] proxy_0.4-29                cachem_1.1.0               
## [121] stringr_1.6.0               rootSolve_1.8.2.4          
## [123] parallel_4.6.0              foreign_0.8-91             
## [125] AnnotationDbi_1.73.0        restfulr_0.0.16            
## [127] desc_1.4.3                  pillar_1.11.1              
## [129] grid_4.6.0                  vctrs_0.7.1                
## [131] cluster_2.1.8.2             htmlTable_2.4.3            
## [133] evaluate_1.0.5              readr_2.2.0                
## [135] GenomicFeatures_1.63.1      mvtnorm_1.3-5              
## [137] cli_3.6.5                   compiler_4.6.0             
## [139] Rsamtools_2.27.1            rlang_1.1.7                
## [141] crayon_1.5.3                aws.signature_0.6.0        
## [143] plyr_1.8.9                  forcats_1.0.1              
## [145] fs_1.6.7                    stringi_1.8.7              
## [147] BiocParallel_1.45.0         Biostrings_2.79.5          
## [149] lazyeval_0.2.2              Matrix_1.7-4               
## [151] downloadR_1.0.0             dir.expiry_1.19.0          
## [153] BSgenome_1.79.1             patchwork_1.3.2            
## [155] hms_1.1.4                   bit64_4.6.0-1              
## [157] ggplot2_4.0.2               KEGGREST_1.51.1            
## [159] SummarizedExperiment_1.41.1 haven_2.5.5                
## [161] memoise_2.0.1               bslib_0.10.0               
## [163] bit_4.6.0                   readxl_1.4.5