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系统生物学 PGWAS:通过使用计算技术和整合多种组学数据集简化 GWAS 分析。

SysBiolPGWAS: simplifying post-GWAS analysis through the use of computational technologies and integration of diverse omics datasets.

机构信息

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State 112104, Nigeria.

South African National Bioinformatics Institute, Life Sciences Building, University of Western Cape, Cape Town 7535, Republic of South Africa.

出版信息

Bioinformatics. 2023 Jan 1;39(1). doi: 10.1093/bioinformatics/btac791.

DOI:10.1093/bioinformatics/btac791
PMID:36477976
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9825739/
Abstract

MOTIVATION

Post-genome-wide association studies (pGWAS) analysis is designed to decipher the functional consequences of significant single-nucleotide polymorphisms (SNPs) in the era of GWAS. This can be translated into research insights and clinical benefits such as the effectiveness of strategies for disease screening, treatment and prevention. However, the setup of pGWAS (pGWAS) tools can be quite complicated, and it mostly requires big data. The challenge however is, scientists are required to have sufficient experience with several of these technically complex and complicated tools in order to complete the pGWAS analysis.

RESULTS

We present SysBiolPGWAS, a pGWAS web application that provides a comprehensive functionality for biologists and non-bioinformaticians to conduct several pGWAS analyses to overcome the above challenges. It provides unique functionalities for analysis involving multi-omics datasets and visualization using various bioinformatics tools. SysBiolPGWAS provides access to individual pGWAS tools and a novel custom pGWAS pipeline that integrates several individual pGWAS tools and data. The SysBiolPGWAS app was developed to be a one-stop shop for pGWAS analysis. It targets researchers in the area of the human genome and performs its analysis mainly in the autosomal chromosomes.

AVAILABILITY AND IMPLEMENTATION

SysBiolPGWAS web app was developed using JavaScript/TypeScript web frameworks and is available at: https://spgwas.waslitbre.org/. All codes are available in this GitHub repository https://github.com/covenant-university-bioinformatics.

摘要

动机

全基因组关联研究 (pGWAS) 分析旨在破译全基因组关联研究 (GWAS) 时代重大单核苷酸多态性 (SNP) 的功能后果。这可以转化为研究见解和临床益处,例如疾病筛查、治疗和预防策略的有效性。然而,pGWAS(pGWAS)工具的设置可能相当复杂,而且它主要需要大数据。然而,挑战在于,科学家需要具备使用这些技术复杂且复杂的工具的足够经验,才能完成 pGWAS 分析。

结果

我们提出了 SysBiolPGWAS,这是一个 pGWAS 网络应用程序,为生物学家和非生物信息学家提供了全面的功能,以进行多项 pGWAS 分析,以克服上述挑战。它提供了涉及多组学数据集的独特分析功能和使用各种生物信息学工具进行可视化。SysBiolPGWAS 提供了对单个 pGWAS 工具和一个新的自定义 pGWAS 管道的访问,该管道集成了几个单个 pGWAS 工具和数据。SysBiolPGWAS 应用程序旨在成为 pGWAS 分析的一站式服务。它针对人类基因组领域的研究人员,并主要在常染色体上进行分析。

可用性和实现

SysBiolPGWAS 网络应用程序是使用 JavaScript/TypeScript 网络框架开发的,可在以下网址访问:https://spgwas.waslitbre.org/。所有代码都可在这个 GitHub 存储库中获得:https://github.com/covenant-university-bioinformatics。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/9825739/b801f86db960/btac791f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/9825739/b801f86db960/btac791f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/9825739/b801f86db960/btac791f1.jpg

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