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