gwasrapidd：一个用于查询、下载和整理 GWAS 目录数据的 R 包。

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

机构信息

Centre for Biomedical Research (CBMR).

Algarve Biomedical Center (ABC).

出版信息

Bioinformatics. 2020 Jan 15;36(2):649-650. doi: 10.1093/bioinformatics/btz605.

DOI:10.1093/bioinformatics/btz605

PMID:31373609

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9883700/

Abstract

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.

摘要

动机

国家人类基因组研究所已发布的全基因组关联研究（GWAS）目录收集、整理并提供了来自 7100 多项研究的数据。最近开发的 GWAS Catalog 表示状态转移（REST）应用程序编程接口（API）是访问此资源的唯一方法。

结果

在这里，我们描述了 gwasrapidd，这是一个 R 包，它为 GWAS Catalog REST API 提供了第一个客户端接口，代表了服务器端组件的重要软件对应物。gwasrapidd 使用户能够快速检索、筛选和整合数据，并与全面的生物信息学分析工具集成，这对于那些研究风险基因座的功能特征的人来说尤为重要。