Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
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DOI：
10.1002/humu.22364
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发表时间：
2013-09-01
期刊：
影响因子：
3.9
通讯作者：
Hegde, Madhuri R.
中科院分区：
文献类型：
--
作者：
Bean, Lora J. H.;Tinker, Stuart W.;Hegde, Madhuri R.
目前的技术使临床实验室能够迅速将小患者群体的研究发现转化为临床基因检测；因此，在具有遗传疾病临床特征的个体中鉴定出的潜在的很大比例的序列变异仍未发表。没有临床实验室共享数据的机制，序列变异的解释可能不一致。我们在这里描述了埃默里遗传实验室（EGL）内部开发的数据管理系统的两个组成部分。第一个是高度管理的变体数据库，其数据结构旨在促进在EGL中识别的变体与管理数据库的信息共享。该系统还跟踪变体分类的变化，在分类发生变化时创建需要更新报告的先前案例的记录。第二个组件EmVClass是一个基于web的界面，允许任何用户查看EGL分类的变体清单。这些软件工具为临床遗传学实验室面临的两个紧迫问题提供了解决方案：如何管理需要与医疗保健提供者沟通的具有不断发展的变体分类的大型变体清单，以及如何使该变体清单免费提供给社区。(C) 2013 Wiley期刊公司
Current technology allows clinical laboratories to rapidly translate research discoveries from small patient cohorts into clinical genetic tests; therefore, a potentially large proportion of sequence variants identified in individuals with clinical features of a genetic disorder remain unpublished. Without a mechanism for clinical laboratories to share data, interpretation of sequence variants may be inconsistent. We describe here the two components of Emory Genetics Laboratory's (EGL) in-house developed data management system. The first is a highly curated variant database with a data structure designed to facilitate sharing of information about variants identified at EGL with curated databases. This system also tracks changes in variant classifications, creating a record of previous cases in need of updated reports when a classification is changed. The second component, EmVClass, is a Web-based interface that allows any user to view the inventory of variants classified at EGL. These software tools provide a solution to two pressing issues faced by clinical genetics laboratories: how to manage a large variant inventory with evolving variant classifications that need to be communicated to healthcare providers and how to make that inventory of variants freely available to the community. (C) 2013 Wiley Periodicals, Inc.