Bioinformatics · 2019 · 68 citations · 3 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomic InformaticsGenomicsDisease Susceptibility LociGenetic Risk AssessmentGenome-wide Association StudiesGenomic Data IntegrationGenomic DatabasesGenomics IntegrationCurated Genome DatabasesFunctional Annotation Of Associated LociGene Catalog DatabasesGenome-wide Association InterpretationProgrammatic Access
MOTIVATION: The National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies (GWAS) Catalog has collected, curated and made available data from over 7100 studies. The recently developed GWAS Catalog representational state transfer (REST) application programming interface (API) is the only method allowing programmatic access to this resource. RESULTS: Here, we describe gwasrapidd, an R package that provides the first client interface to the GWAS Catalog REST API, representing an important software counterpart to the server-side component. gwasrapidd enables users to quickly retrieve, filter and integrate data with comprehensive bioinformatics analysis tools, which is particularly critical for those looking into functional characterization of risk loci. AVAILABILITY AND IMPLEMENTATION: gwasrapidd is freely available under an MIT License, and can be accessed from https://github.com/ramiromagno/gwasrapidd. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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R: A Language and Environment for Statistical Computing
R Core Team · 2000 · 353K citations · Full text
Natural Sciences, Computer Science, Statistical Computing +10
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Danielle Welter, Jacqueline A. L. MacArthur, Joannella Morales et al. · Nucleic Acids Research · 2013 · 2.9K citations · Full text
Hadley Wickham · Journal of Statistical Software · 2014 · 902 citations · Full text