PanelApp

PanelApp是一个公开可用的知识库，用于创建、存储和查询与人类疾病相关的虚拟基因面板。它是一个众包工具，允许全球科学界的专家添加或审查基因和基因组实体，为基因面板标准化和疾病关联基因共识提供机会。PanelApp最初是为了帮助解释10万人基因组项目中的参与者基因组而开发的，现在也被用作NHS基因组医学服务(GMS)中达成基因面板共识的平台。PanelApp is a publicly available knowledge base for creating, storing, and querying virtual gene panels associated with human diseases. It is a crowdsourced tool that enables experts from the global scientific community to add or review genetic and genomic entities, providing opportunities for the standardization of gene panels and the establishment of consensus on disease-associated genes. Originally developed to assist with interpreting the genomes of participants in the 100,000 Genomes Project, PanelApp is now also utilized as a platform for reaching consensus on gene panels within the NHS Genomic Medicine Service (GMS).