The goal of {gwasrapidd} is to provide programmatic
access to the NHGRI-EBI Catalog
of published genome-wide association studies.
Get started by reading the documentation.
Install {gwasrapidd} from CRAN:
install.packages("gwasrapidd")Get studies related to triple-negative breast cancer:
library(gwasrapidd)
studies <- get_studies(efo_trait = 'triple-negative breast cancer')
studies@studies[1:4]
## # A tibble: 12 × 4
##    study_id     reported_trait        initial_sample_size replication_sample_s…¹
##    <chr>        <chr>                 <chr>               <chr>                 
##  1 GCST002305   Breast cancer (estro… 1,529 European anc… 2,148 European ancest…
##  2 GCST90029052 15-year breast cance… 5,631 European anc… <NA>                  
##  3 GCST90296722 Breast cancer (estro… 2,860 African or A… <NA>                  
##  4 GCST90446470 Breast cancer subtyp… 16,499 European an… <NA>                  
##  5 GCST90446471 Breast cancer subtyp… 16,499 European an… <NA>                  
##  6 GCST90446472 Breast cancer subtyp… 16,499 European an… <NA>                  
##  7 GCST90446474 Breast cancer subtyp… 16,499 European an… <NA>                  
##  8 GCST010100   Breast cancer (tripl… 18,016 European an… <NA>                  
##  9 GCST90454344 Breast cancer (tripl… ~14,900 European a… <NA>                  
## 10 GCST90551896 Triple-negative brea… 262 Bantu-speaking… <NA>                  
## 11 GCST90551897 Triple-negative brea… 262 Bantu-speaking… <NA>                  
## 12 GCST90551898 Triple-negative brea… 262 Bantu-speaking… <NA>                  
## # ℹ abbreviated name: ¹replication_sample_sizeFind associated variants with study GCST002305:
variants <- get_variants(study_id = 'GCST002305')
variants@variants[c('variant_id', 'functional_class')]
## # A tibble: 5 × 2
##   variant_id functional_class   
##   <chr>      <chr>              
## 1 rs4245739  3_prime_UTR_variant
## 2 rs2363956  missense_variant   
## 3 rs10069690 intron_variant     
## 4 rs3757318  intron_variant     
## 5 rs10771399 intergenic_variant{gwasrapidd} was published in Bioinformatics in 2019: https://doi.org/10.1093/bioinformatics/btz605.
To generate a citation for this publication from within R:
citation('gwasrapidd')
## To cite gwasrapidd in publications use:
## 
##   Ramiro Magno, Ana-Teresa Maia, gwasrapidd: an R package to query,
##   download and wrangle GWAS Catalog data, Bioinformatics, btz605, 2
##   August 2019, Pages 1-2, https://doi.org/10.1093/bioinformatics/btz605
## 
## A BibTeX entry for LaTeX users is
## 
##   @Article{,
##     title = {gwasrapidd: an R package to query, download and wrangle GWAS Catalog data},
##     author = {Ramiro Magno and Ana-Teresa Maia},
##     journal = {Bioinformatics},
##     year = {2019},
##     pages = {1--2},
##     url = {https://doi.org/10.1093/bioinformatics/btz605},
##   }Please note that the {gwasrapidd} project is released
with a Contributor
Code of Conduct. By contributing to this project, you agree to abide
by its terms.
This work would have not been possible without the precious help from the GWAS Catalog team, particularly Daniel Suveges.