Department of Pathology, Virginia Commonwealth University, Richmond, Virginia.
Cancer Cytopathol. 2014 Oct;122(10):730-6. doi: 10.1002/cncy.21471. Epub 2014 Aug 8.
Next-generation sequencing (NGS) has become an important tool for identifying clinically relevant variants in both inherited disorders and oncology. Variants annotation that enables the creation of meaningful clinical reports often requires mining multiple publicly available databases. There are a number of such resources that have been designed to catalog and mine a plethora of germline variants or mutations. However, when analyzing tumor specimens in clinical settings, one may need to use different or ancillary resources that are specific for somatic variants or actionable mutations that may have clinical or treatment implications. The purpose of this review is to recapitulate the state of the art of somatic variation databases, which can aid in the clinical interpretation of NGS-based assays in oncology. In addition, the current need for collating various annotation sources into one-stop solutions to facilitate faster query execution and better integration into existing laboratory information systems are discussed.
下一代测序 (NGS) 已成为鉴定遗传性疾病和肿瘤学中临床相关变异的重要工具。能够生成有意义的临床报告的变异注释通常需要挖掘多个公开可用的数据库。有许多这样的资源旨在对大量种系变异或突变进行编目和挖掘。然而，在临床环境中分析肿瘤标本时，可能需要使用特定于体细胞变异或可操作突变的不同或辅助资源，这些突变可能具有临床或治疗意义。本文的目的是回顾体细胞变异数据库的最新技术，这有助于临床解释肿瘤学中基于 NGS 的检测。此外，还讨论了当前将各种注释来源整理到一站式解决方案中的需求，以方便更快地执行查询并更好地集成到现有的实验室信息系统中。
