Genomics England | PanelApp

Genomics England PanelApp is a publically-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association. The diagnostic grade ‘Green’ genes and their modes of inheritance in the Version 1+ PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project and for the National Health Service England Genomic Medicine Service. As panels in PanelApp are publically available, they can also be utilised by others. Experts are asked to register (https://panelapp.genomicsengland.co.uk/accounts/registration/) in order to review and rate the genes on the panel to indicate whether there is a diagnostic-grade level of evidence for the gene to be implicated in a given disease. Bioinformaticians can access the data via the PanelApp API (https://panelapp.genomicsengland.co.uk/#!API). More detailed background information, instructions and updates can be found on the PanelApp homepage tabs.Genomics England PanelApp是一款公开可用的知识库，可用于创建、存储与查询与人类疾病相关的虚拟基因面板。该平台搭载众包工具，允许全球科学界专家添加或审核基因条目，为基因面板的标准化以及就“哪些基因具备足够证据支持疾病关联”达成共识提供了契机。在V1及以上版本的PanelApp虚拟基因面板中，诊断级“绿色”基因及其遗传模式，被用于指导“10万基因组计划”与英国国民保健署基因组医学服务的基因组解读中的变异分层流程。由于PanelApp的基因面板均为公开可用，因此也可供其他方使用。专家需注册账号（https://panelapp.genomicsengland.co.uk/accounts/registration/）后方可审核并评级面板内的基因，以标注该基因是否具备与特定疾病相关的诊断级证据。生物信息学家可通过PanelApp应用程序编程接口（Application Programming Interface，API）获取平台数据（https://panelapp.genomicsengland.co.uk/#!API）。更详细的背景信息、操作指南与更新内容可通过PanelApp主页的相关标签页查阅。

搜集汇总

背景与挑战

背景概述

Genomics England PanelApp是一个公开的知识库，支持创建、存储和查询与人类疾病相关的虚拟基因面板。它通过专家众包工具实现基因评估和标准化，并为100,000 Genomes Project等提供诊断级基因指导，数据可通过API访问。