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临床应用的基因组变异注释工作流程。

Genomic variant annotation workflow for clinical applications.

作者信息

Thurnherr Thomas, Singer Franziska, Stekhoven Daniel J, Beerenwinkel Niko

机构信息

Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland; SIB Swiss Institute of Bioinformatics, Basel, Switzerland.

SIB Swiss Institute of Bioinformatics, Basel, Switzerland; NEXUS Personalized Health Technologies, ETH Zurich, Zurich, Switzerland.

出版信息

F1000Res. 2016 Aug 12;5:1963. doi: 10.12688/f1000research.9357.2. eCollection 2016.

Abstract

Annotation and interpretation of DNA aberrations identified through next-generation sequencing is becoming an increasingly important task. Even more so in the context of data analysis pipelines for medical applications, where genomic aberrations are associated with phenotypic and clinical features. Here we describe a workflow to identify potential gene targets in aberrated genes or pathways and their corresponding drugs. To this end, we provide the R/Bioconductor package rDGIdb, an R wrapper to query the drug-gene interaction database (DGIdb). DGIdb accumulates drug-gene interaction data from 15 different resources and allows filtering on different levels. The rDGIdb package makes these resources and tools available to R users. Moreover, rDGIdb queries can be automated through incorporation of the rDGIdb package into NGS sequencing pipelines.

摘要

通过下一代测序鉴定出的DNA畸变的注释和解读正成为一项日益重要的任务。在医学应用的数据分析流程中更是如此,因为基因组畸变与表型和临床特征相关。在这里,我们描述了一种工作流程,用于识别异常基因或通路中的潜在基因靶点及其相应药物。为此,我们提供了R/Bioconductor包rDGIdb,它是一个用于查询药物-基因相互作用数据库(DGIdb)的R包装器。DGIdb积累了来自15种不同资源的药物-基因相互作用数据,并允许在不同层面进行筛选。rDGIdb包使这些资源和工具可供R用户使用。此外,通过将rDGIdb包纳入NGS测序流程,可以实现rDGIdb查询的自动化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8a7/5130143/9f24d8edd27f/f1000research-5-10559-g0000.jpg

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