33.利用 OpenCRAVAT 自定义变体解释工作流程

IF 1.4 4区 医学 Q4 GENETICS & HEREDITY Cancer Genetics Pub Date : 2024-08-01 DOI:10.1016/j.cancergen.2024.08.035
Rachel Karchin , Jasmine Baker , Kyle Moad , Kyle Anderson , Madison Larsen , Supra Gajjala , James Higgins , Ben Busby
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引用次数: 0

摘要

OpenCRAVAT 是一个开源的模块化变异元注释器,旨在为广大受众提供变异解读服务。模块化设计使研究人员能够设计定制的工作流程,并利用各种分析方法,促进个性化的变异解释方法。有关变异的宝贵信息分散在数百个数据库和计算变异效应预测器中,而 OpenCRAVAT 则集中了这些工具,并通过一个易于使用的界面提供给用户。数百种工具可通过点击或简单的命令行语句进行安装,并以多种输出格式合并和显示结果。这些工具适用于广泛的变异类型,包括种系变异、体细胞变异、常见变异、罕见变异、编码变异和非编码变异。我们最近推出了 "软件包",这是一项新功能,包括注释器、过滤器和输出布局的预配置组合,主要针对特定的变异相关问题。例如,"药物相互作用包 "旨在查找药物基因组注释;"遗传性癌症包 "查找已知遗传性癌症基因中的罕见变异;而 "剪接包 "则侧重于与异常剪接相关的变异。我们现在正在增加对大型结构变异注释的支持、对用户定义的患者队列中遗传变异的比较,以及在云中注释超大型(英国生物库规模)队列的工作流程。为了支持新抗原的发现,我们在癌症表位数据库和分析资源(CEDAR)中提供了表位注释。最后,我们根据分子肿瘤委员会的需求定制了单个变异报告应用程序,以协助肿瘤学家做出治疗决策。
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33. Customize your variant interpretation workflow with OpenCRAVAT
OpenCRAVAT is an open-source modular variant meta-annotator designed to make variant interpretation accessible to a wide audience. The modular design allows researchers to design customized workflows and utilize a diverse set of analysis methods, fostering a personalized approach to variant interpretation. While valuable information about variants is scattered across hundreds of databases and computational variant effect predictors, OpenCRAVAT centralizes access to these tools and makes them available through an easy-to-use interface. Hundreds of tools can be installed using point-and-click or simple command-line statements, and results are combined and presented in a variety of output formats. These tools cater to a broad range of variant types, encompassing germline, somatic, common, rare, coding and non-coding variants. We have recently introduced 'Packages', a new feature that consists of pre-configured combinations of annotators, filters, and output layouts that are focused on specific variant-related questions. For example, the Drug Interaction Package is designed to find pharmacogenomic annotations; the Hereditary Cancer Package finds rare variants in known hereditary cancer genes; and the Splicing Package focuses on variants associated with aberrant splicing. We are now adding support for annotation of large structural variants, comparison of genetic variants across user-defined patient cohorts, and a workflow for annotation of very large (UK-Biobank sized) cohorts in the cloud. To support neoantigen discovery, we provide annotations of epitopes in the Cancer Epitope Database and Analysis Resource (CEDAR). Finally, we provide a Single Variant Report application customized to the needs of molecular tumor boards, to assist oncologists in making treatment decisions.
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来源期刊
Cancer Genetics
Cancer Genetics ONCOLOGY-GENETICS & HEREDITY
CiteScore
3.20
自引率
5.30%
发文量
167
审稿时长
27 days
期刊介绍: The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
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