摘要/Abstract

摘要： 目的 ·建立急性淋巴细胞白血病（ acute lymphoblastic leukemia，ALL）基因融合与突变知识库，以辅助临床基因检测。方法 ·通过对文献进行文本挖掘，收集 ALL相关的基因融合与突变注释信息。基于 NodeJS平台的 Express框架和 MySQL数据库系统的服务端开发环境，构建知识库服务网站。结果 ·通过对文献进行文本挖掘和人工手动矫正，共收集了 246条 ALL相关融合和突变基因词条，每项词条包含生物学性状、临床相关性解释、临床指导意见、靶向药物和化疗药物等多个生物学和临床相关条目，建立起一个便于管理的 ALL相关知识库。结论 ·该知识库除了包含 ALL相关或潜在相关癌症基因基本信息外，还着重整理了临床相关的注释信息，为 ALL的临床基因检测及后续的精准医疗提供参考。
关键词: 急性淋巴细胞白血病, 基因融合, 基因突变, 知识库
Abstract:
Objective · To construct a database of fusion and mutation gene annotations for acute lymphoblastic leukemia (ALL) to assist genetic testing. Methods · ALL related gene annotations were collectedmining medical literature. The web server of the database was constructed based on Express framework, a NodeJS web application framework, and MySQL as the server-side development environment. Results · A total of 246 ALL-associated fusion and mutation gene entries were collected through programmed and manual text mining, including biological characteristics, clinical characteristics, clinical directions, target drugs and chemotherapeutic drugs. A web server of the ALL related gene knowledge database was established for convenient data management. Conclusion · In addition to the basic information about ALL related or potentially related genes, the database also involves clinical information which can be a reference tool for precision medicine of ALL.
Key words: acute lymphoblastic leukemia, gene fusion, gene mutation, knowledge database


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