University of Utah, Salt Lake City, UT.
Huntsman Cancer Institute, Salt Lake City, UT.
AMIA Annu Symp Proc. 2023 Apr 29;2022:1145-1152. eCollection 2022.
While there are several public repositories of biological sequence variation data and associated annotations, there is little open-source tooling designed specifically for the upkeep of local collections of variant data. Many clinics curate and maintain such local collections and are burdened by frequent changes in the representation of those variants and evolving interpretations of clinical significance. A dictionary of genetic variants from the Huntsman Cancer Institute was analyzed over a period of two years and used to inform the development of LocalVar. This tool uses publicly available ClinVar files to provide the following functionality: auto-complete search bar to pre-empt duplicate entries; single or bulk new variant record entry; auto-detection of duplicate and synonymous variant records; asynchronous suggestion of HGVS expression or variant interpretation updates; extensive edit history tracking; and the easy export of the collection (.csv), edit history (.json), or HGVS synonym bins (.json).
虽然有几个公共生物序列变异数据存储库和相关注释,但很少有专门为维护本地变异数据集合而设计的开源工具。许多诊所都会收集和维护这样的本地数据集,但由于变异的表示形式经常发生变化以及对临床意义的解释不断发展,他们面临着很大的负担。对亨茨曼癌症研究所的一个基因变异字典进行了为期两年的分析,并用于为 LocalVar 的开发提供信息。该工具使用公共可用的 ClinVar 文件提供以下功能:自动完成搜索栏,以防止重复条目;单个或批量输入新的变异记录;自动检测重复和同义变异记录;异步建议 HGVS 表达或变异解释更新;广泛的编辑历史记录跟踪;以及方便地导出集合(.csv)、编辑历史记录(.json)或 HGVS 同义 bin(.json)。