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library(dplyr)
library(data.table)
library(stringr)
gwas_study_info <- fread(here::here("output/gwas_cat/gwas_study_info_trait_cat.csv"))
Let’s look at the number of studies associated with each unique disease/trait term before any grouping or collapsing.
n_studies_trait = gwas_study_info |>
dplyr::filter(DISEASE_STUDY == T) |>
dplyr::select(all_disease_terms, PUBMED_ID) |>
dplyr::distinct() |>
dplyr::group_by(all_disease_terms) |>
dplyr::summarise(n_studies = dplyr::n()) |>
dplyr::arrange(desc(n_studies))
head(n_studies_trait)
# A tibble: 6 × 2
all_disease_terms n_studies
<chr> <int>
1 type 2 diabetes mellitus 144
2 major depressive disorder 108
3 alzheimer disease 104
4 asthma 99
5 schizophrenia 99
6 breast carcinoma 98
dim(n_studies_trait)
[1] 3202 2
# Basic cleaning of disease terms
# Removes trailing commas,
gwas_study_info$all_disease_terms = sub(",$", "", gwas_study_info$all_disease_terms)
# trims whitespace
gwas_study_info$all_disease_terms = stringr::str_trim(gwas_study_info$all_disease_terms)
# remove apostrophes
gwas_study_info$all_disease_terms = stringr::str_remove_all(gwas_study_info$all_disease_terms, "'|’")
# initializes a new column (collected_all_disease_terms) to standardized traits
# collapse more traits
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms = all_disease_terms)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"susceptibility to (.*?) measurement(?=,|$)", "\\1")
) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"susceptibility to (.*?) (.*?) measurement(?=,|$)", "\\1 \\2")
) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"susceptibility to (.*?) (.*?) infection(?=,|$)", "\\1 \\2")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"susceptibility to viral and mycobacterial infections",
"viral and mycobacterial infections")
) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"susceptibility to strep throat",
"strep throat")
) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"decreased susceptibility to bacterial infection",
"bacterial infection")
) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"bruising susceptibility",
"bruisability")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_remove(collected_all_disease_terms, " symptom severity measurement")
) |>
mutate(collected_all_disease_terms =
stringr::str_remove(collected_all_disease_terms, " severity measurement| exacerbation measurement")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"(.*?) (.*?) measurement(?=,|$)", "\\1 \\2")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"\\bdependence\\s+measurement(?=,|$)",
"dependence")) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"\\ballergy\\s+measurement(?=,|$)",
"allergy")) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"\\baddiction\\s+measurement(?=,|$)",
"addiction")) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"\\bsyndrome\\s+measurement(?=,|$)",
"syndrome")) |>
mutate(collected_all_disease_terms =
str_replace_all(collected_all_disease_terms,
"\\bdisorder\\s+measurement(?=,|$)",
"disorder"))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_remove(collected_all_disease_terms,
pattern = "age of onset of ")
)
gwas_study_info =
gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms ,
pattern = "age of onset of type 2 diabetes mellitus",
"type 2 diabetes mellitus"
)
)
gwas_study_info =
gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms ,
pattern = "age of onset of alzheimer disease",
"alzheimers disease"
)
)
# febrile seizure (within the age range of 3 months to 6 years)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms ,
pattern = "febrile seizure \\(within the age range of 3 months to 6 years\\)",
"febrile seizure"
)
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_remove(collected_all_disease_terms,
pattern = "family history of "))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"family history of alzheimer’s disease",
"alzheimers disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_remove_all(collected_all_disease_terms,
"^disease progression, |"
)) |>
mutate(collected_all_disease_terms =
stringr::str_remove_all(collected_all_disease_terms,
", disease progression$"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
", disease progression, ",
", "
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"time to remission of covid-19 symptoms",
"covid-19"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"adhd symptom",
"adhd")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"agoraphobia symptom",
"agoraphobia"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"autism spectrum disorders symptom",
"autism")
) |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"autism spectrum disorder symptom",
"autism")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"autism symptom",
"autism")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"autism symptom",
"autism")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"agoraphobia symptom measurement",
"agoraphobia"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"alzheimer disease neuropathological change",
"alzheimers disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"alzheimers disease neuropathologic change",
"alzheimers disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"alzheimers disease biomarker",
"alzheimers disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"asthma symptoms",
"asthma"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"covid-19 symptoms",
"covid-19"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"irritable bowel syndrome symptom",
"irritable bowel syndrome"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"multiple sclerosis symptom",
"multiple sclerosis"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"obsessive-compulsive symptom",
"obsessive-compulsive disorder"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"parkinsons disease symptom",
"parkinsons disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"post-traumatic stress disorder symptom",
"post-traumatic stress disorder"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"respiratory symptom change",
"respiratory symptom"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"anxiety measurement",
"anxiety"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"insomnia measurement",
"insomnia"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"lewy body dementia measurement",
"lewy body dementia"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"cocaine use disorder|cocaine dependence",
"cocaine-related disorders"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"nicotine dependence symptom count",
"nicotine dependence"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"nicotine withdrawal symptom count|nicotine withdrawal measurement",
"nicotine withdrawal"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"attention deficit hyperactivity disorder",
"adhd"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"anemia \\(phenotype\\)",
"anemia"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"autism spectrum disorder",
"autism")
) |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"asperger syndrome",
"autism")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"\\bcarcinoma",
"cancer")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"coronary atherosclerosis",
"coronary artery disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"head and neck malignant neoplasia",
"head and neck cancer"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"hepatitis a virus infection",
"hepatitis a infection"
)) |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"hepatitis b virus infection",
"hepatitis b infection"
)) |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"hepatitis c virus infection",
"hepatitis c infection"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"chronic hepatitis c virus infection",
"chronic hepatitis, hepatitis c infection"
)) |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"chronic hepatitis b virus infection",
"chronic hepatitis, hepatitis b infection"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"hepatitis virus-related liver cancer",
"hepatitis, liver cancer"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"narcolepsy without cataplexy",
"narcolepsy"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"mumps virus infectious disease",
"mumps"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"renal cancer",
"kidney cancer"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"rubella infection",
"rubella"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"multiple sclerosis symptom measurement",
"multiple sclerosis"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"type 1 diabetes(?=,|$)",
"type 1 diabetes mellitus")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"type 1 diabetes(?=,|$)",
"type 1 diabetes mellitus")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"type 1 diabetes mellitus nephropathy",
"type 1 diabetes nephropathy")
)
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"von willebrand disease \\(hereditary or acquired\\)",
"von willebrand disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"alzheimer disease",
"alzheimers disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"parkinson disease",
"parkinsons disease"
))
gwas_study_info = gwas_study_info |>
mutate(collected_all_disease_terms =
stringr::str_replace_all(collected_all_disease_terms,
"decreased hepatitis c",
"hepatitis c"
))
gwas_study_info = gwas_study_info |>
rowwise() |>
mutate(
collected_all_disease_terms = paste0(
unique(unlist(stringr::str_split(collected_all_disease_terms, ", "))),
collapse = ", "
)
) |>
ungroup()
gwas_study_info$collected_all_disease_terms = stringr::str_trim(gwas_study_info$collected_all_disease_terms)
gwas_study_info$collected_all_disease_terms = sub(",$", "", gwas_study_info$collected_all_disease_terms)
gwas_study_info$collected_all_disease_terms = stringr::str_replace_all(gwas_study_info$collected_all_disease_terms, "^, ", "")
n_studies_trait = gwas_study_info |>
dplyr::filter(DISEASE_STUDY == T) |>
dplyr::select(collected_all_disease_terms, PUBMED_ID) |>
dplyr::distinct() |>
dplyr::group_by(collected_all_disease_terms) |>
dplyr::summarise(n_studies = dplyr::n()) |>
dplyr::arrange(desc(n_studies))
head(n_studies_trait)
# A tibble: 6 × 2
collected_all_disease_terms n_studies
<chr> <int>
1 type 2 diabetes mellitus 145
2 alzheimers disease 116
3 breast cancer 112
4 asthma 110
5 major depressive disorder 108
6 schizophrenia 103
dim(n_studies_trait)
[1] 3065 2
diseases <- stringr::str_split(pattern = ", ",
gwas_study_info$collected_all_disease_terms[gwas_study_info$collected_all_disease_terms != ""]) |>
unlist() |>
stringr::str_trim()
length(unique(diseases))
[1] 2194
# make frequency table
freq <- table(as.factor(diseases))
# sort in decreasing order
freq_sorted <- sort(freq, decreasing = TRUE)
# show top N, e.g. top 10
head(freq_sorted, 10)
chronic kidney disease hypertension type 2 diabetes mellitus
10828 6991 922
major depressive disorder coronary artery disease alzheimers disease
471 456 406
schizophrenia covid-19 asthma
356 305 283
breast cancer
270
fwrite(gwas_study_info,
here::here("output/gwas_cat/gwas_study_info_disease_trait_simplified.csv"))
sessionInfo()
R version 4.3.1 (2023-06-16)
Platform: aarch64-apple-darwin20 (64-bit)
Running under: macOS 15.6.1
Matrix products: default
BLAS: /Library/Frameworks/R.framework/Versions/4.3-arm64/Resources/lib/libRblas.0.dylib
LAPACK: /Library/Frameworks/R.framework/Versions/4.3-arm64/Resources/lib/libRlapack.dylib; LAPACK version 3.11.0
locale:
[1] en_US.UTF-8/en_US.UTF-8/en_US.UTF-8/C/en_US.UTF-8/en_US.UTF-8
time zone: America/Los_Angeles
tzcode source: internal
attached base packages:
[1] stats graphics grDevices datasets utils methods base
other attached packages:
[1] stringr_1.5.1 data.table_1.17.8 dplyr_1.1.4 workflowr_1.7.1
loaded via a namespace (and not attached):
[1] jsonlite_2.0.0 compiler_4.3.1 renv_1.0.3 promises_1.3.3
[5] tidyselect_1.2.1 Rcpp_1.1.0 git2r_0.36.2 callr_3.7.6
[9] later_1.4.2 jquerylib_0.1.4 yaml_2.3.10 fastmap_1.2.0
[13] here_1.0.1 R6_2.6.1 generics_0.1.4 knitr_1.50
[17] tibble_3.3.0 rprojroot_2.1.0 bslib_0.9.0 pillar_1.11.0
[21] rlang_1.1.6 utf8_1.2.6 cachem_1.1.0 stringi_1.8.7
[25] httpuv_1.6.16 xfun_0.52 getPass_0.2-4 fs_1.6.6
[29] sass_0.4.10 cli_3.6.5 withr_3.0.2 magrittr_2.0.3
[33] ps_1.9.1 digest_0.6.37 processx_3.8.6 rstudioapi_0.17.1
[37] lifecycle_1.0.4 vctrs_0.6.5 evaluate_1.0.4 glue_1.8.0
[41] whisker_0.4.1 rmarkdown_2.29 httr_1.4.7 tools_4.3.1
[45] pkgconfig_2.0.3 htmltools_0.5.8.1