gwasrapidd
gwasrapidd provides programmatic access to the National Human Genome Research Institute's GWAS Catalog via its REST API, exposing GWAS Catalog data in R for retrieval, filtering, and downstream analysis.
Key Features:
- Programmatic access via REST API: Implements an R client to query and download data from the GWAS Catalog REST API.
- Data retrieval and filtering: Provides functions to retrieve specific GWAS Catalog datasets and apply filters to select data by traits, loci, or study criteria.
- Integration with bioinformatics tools: Exposes GWAS Catalog data as R objects suitable for use with other bioinformatics analysis packages and workflows.
Scientific Applications:
- Identification of genetic risk factors: Enables exploration of associations between genetic variants and diseases or traits using GWAS Catalog records.
- Functional genomics studies: Supports investigation of biological mechanisms underlying GWAS-identified loci and the functional characterization of risk loci.
- Data integration and meta-analyses: Facilitates aggregation and comparison of GWAS Catalog data across studies to support meta-analyses and cross-study analyses.
Methodology:
Retrieves GWAS Catalog data by querying the GWAS Catalog REST API and exposes functions in R to access, filter, and manipulate the retrieved datasets.
Topics
Details
- License:
- MIT
- Maturity:
- Mature
- Cost:
- Free of charge
- Tool Type:
- library
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- R
- Added:
- 8/3/2019
- Last Updated:
- 11/24/2024
Operations
Publications
Magno R, Maia A. gwasrapidd: an R package to query, download and wrangle GWAS catalog data. Bioinformatics. 2019;36(2):649-650. doi:10.1093/bioinformatics/btz605. PMID:31373609. PMCID:PMC9883700.
PMID: 31373609
PMCID: PMC9883700
Funding: - CRESC ALGARVE 2020: ALG-01-0145-FEDER-31477, POCI-01-0145-FEDER-022184, UID/BIM/04773/2013
Documentation
Links
Issue tracker
https://github.com/ramiromagno/gwasrapidd/issues