-
Notifications
You must be signed in to change notification settings - Fork 14
/
README.Rmd
93 lines (67 loc) · 3.21 KB
/
README.Rmd
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
---
output: github_document
---
<!-- README.md is generated from README.Rmd. Please edit that file -->
```{r setup, include = FALSE}
knitr::opts_chunk$set(
collapse = TRUE,
# comment = "#>",
fig.path = "man/figures/README-",
out.width = "100%"
)
```
# gwasrapidd <img src="man/figures/logo.svg" align="right" height=140/>
[![CRAN status](https://www.r-pkg.org/badges/version/gwasrapidd)](https://CRAN.R-project.org/package=gwasrapidd)
[![](https://img.shields.io/badge/doi-10.1093/bioinformatics/btz605-blue.svg)](https://doi.org/10.1093/bioinformatics/btz605)
[![](https://img.shields.io/badge/Altmetric-38-yellow.svg)](https://www.altmetric.com/details/64505748)
[![R build status](https://github.com/ramiromagno/gwasrapidd/workflows/R-CMD-check/badge.svg)](https://github.com/ramiromagno/gwasrapidd/actions)
[![Codecov test coverage](https://codecov.io/gh/ramiromagno/gwasrapidd/branch/master/graph/badge.svg)](https://app.codecov.io/gh/ramiromagno/gwasrapidd?branch=master)
[![License: MIT](https://img.shields.io/badge/License-MIT-yellow.svg)](https://opensource.org/license/mit/)
The goal of `{gwasrapidd}` is to provide programmatic access to the [NHGRI-EBI
Catalog](https://www.ebi.ac.uk/gwas) of published genome-wide association
studies.
Get started by reading the
[documentation](https://rmagno.eu/gwasrapidd/articles/gwasrapidd.html).
## Installation
Install `{gwasrapidd}` from CRAN:
``` r
install.packages("gwasrapidd")
```
## Cheatsheet
<a href="https://github.com/rstudio/cheatsheets/blob/master/gwasrapidd.pdf"><img src="https://raw.githubusercontent.com/rstudio/cheatsheets/master/pngs/gwasrapidd.png" width="420" height="300"/></a>
## Example
Get studies related to triple-negative breast cancer:
```{r example1}
library(gwasrapidd)
studies <- get_studies(efo_trait = 'triple-negative breast cancer')
studies@studies[1:4]
```
Find associated variants with study `r studies@studies$study_id[1]`:
```{r example2}
variants <- get_variants(study_id = 'GCST002305')
variants@variants[c('variant_id', 'functional_class')]
```
## Citing this work
`{gwasrapidd}` was published in Bioinformatics in 2019:
https://doi.org/10.1093/bioinformatics/btz605.
To generate a citation for this publication from within R:
```{r citation}
citation('gwasrapidd')
```
## Code of Conduct
Please note that the `{gwasrapidd}` project is released with a [Contributor Code
of Conduct](https://rmagno.eu/gwasrapidd/CODE_OF_CONDUCT.html). By contributing
to this project, you agree to abide by its terms.
## Similar projects
- Bioconductor R package *gwascat* by Vincent J Carey:
[https://www.bioconductor.org/packages/release/bioc/html/gwascat.html](https://www.bioconductor.org/packages/release/bioc/html/gwascat.html)
- Web application *PhenoScanner V2* by Mihir A. Kamat, James R. Staley, and
others:
[http://www.phenoscanner.medschl.cam.ac.uk/](http://www.phenoscanner.medschl.cam.ac.uk/)
- Web application *GWEHS: Genome-Wide Effect sizes and Heritability Screener* by
Eugenio López-Cortegano and Armando Caballero:
[http://gwehs.uvigo.es/](http://gwehs.uvigo.es/)
## Acknowledgements
This work would have not been possible without the precious help from the GWAS
Catalog team, particularly [Daniel
Suveges](https://www.ebi.ac.uk/about/people/daniel-suveges).