gwasrapidd: an R package to query, download and wrangle GWAS catalog data.

BIOINFORMATICS(2020)

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摘要
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.
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关键词
Genome-wide association studies,GWAS,disease susceptibility,Genomics,GWAS Catalog,R,SNP,trait,trait-ontology,Software,human,REST client
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