GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
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DOI：
10.1002/humu.22844
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发表时间：
2015-10
期刊：
影响因子：
3.9
通讯作者：
Hamosh A
中科院分区：
文献类型：
--
作者：
Sobreira N;Schiettecatte F;Valle D;Hamosh A
在这里，我们描述了 GeneMatcher (http://www.genematcher.org) 的概述和更新，这是一个可免费访问的基于 Web 的工具，是贝勒-霍普金斯孟德尔基因组学中心的一部分开发的。我们创建 GeneMatcher 的目的是识别具有罕见表型的其他个体，这些个体在同一候选疾病基因中具有变异。我们还希望促进与模型系统中研究直系同源基因的基础科学家的联系，目标是将他们的工作与人类孟德尔表型联系起来。实现这些目标将增强新孟德尔基因的识别。 Gene-Matcher 于 2013 年 9 月推出，目前数据库中有来自 38 个国家的 486 名提交者的 2,178 个候选基因（2015 年 6 月 1 日）。 GeneMatcher 也是 Match-maker Exchange (http://matchmakerexchange.org/) 的一部分，其应用程序编程接口使提交者能够查询遗传变异和表型的其他数据库，而无需在多个系统中创建帐户和数据条目。
Here, we describe an overview and update on GeneMatcher (http://www.genematcher.org), a freely accessible Web-based tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics. We created GeneMatcher with the goal of identifying additional individuals with rare phenotypes who had variants in the same candidate disease gene. We also wanted to facilitate connections to basic scientists working on orthologous genes in model systems with the goal of connecting their work to human Mendelian phenotypes. Meeting these goals will enhance the identification of novel Mendelian genes. Launched in September, 2013, Gene-Matcher now has 2,178 candidate genes from 486 submitters spread across 38 countries entered in the database (June 1, 2015). GeneMatcher is also part of the Match-maker Exchange (http://matchmakerexchange.org/) with an Application Programing Interface enabling submitters to query other databases of genetic variants and phenotypes without having to create accounts and data entries in multiple systems.