InSiGHT 数据库:利用 100 年来对林奇综合征的认识。
The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.
机构信息
Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Australia.
出版信息
Fam Cancer. 2013 Jun;12(2):175-80. doi: 10.1007/s10689-013-9616-0.
This article provides a historical overview of the online database ( www.insight-group.org/mutations ) maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of the database, but are not covered here. Over time, as the understanding of the genetics of Lynch Syndrome increased, databases were created to centralise and share the variants which were being detected in ever greater numbers. These databases were eventually merged into the InSiGHT database, a comprehensive repository of gene variant and disease phenotype information, serving as a starting point for important endeavours including variant interpretation, research, diagnostics and enhanced global collection. Pivotal to its success has been the collaborative spirit in which it has been developed, its association with the Human Variome Project, the appointment of a full time curator and its governance stemming from the well established organizational structure of InSiGHT.
本文概述了由国际胃肠道遗传肿瘤学会维护的在线数据库(www.insight-group.org/mutations)的历史。重点是在林奇综合征中发生突变的错配修复基因。APC、MUTYH 和其他基因也是数据库的重要组成部分,但此处未涵盖。随着对林奇综合征遗传的理解的不断深入,创建了数据库来集中和共享不断增加数量的检测到的变体。这些数据库最终合并到 InSiGHT 数据库中,这是一个基因变异和疾病表型信息的综合存储库,作为包括变异解释、研究、诊断和全球收集在内的重要努力的起点。它的成功关键在于其开发过程中的协作精神、与人类变异组计划的关联、全职馆长的任命以及源自 InSiGHT 成熟组织结构的治理。