Innovative genomic collaboration using the GENESIS (GEM.app) platform.
Innovative genomic collaboration using the GENESIS (GEM.app) platform.
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DOI：
10.1002/humu.22836
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发表时间：
2015-10
期刊：
影响因子：
3.9
通讯作者：
Zuchner S
中科院分区：
文献类型：
--
作者：
Gonzalez M;Falk MJ;Gai X;Postrel R;Schüle R;Zuchner S
近年来，下一代测序导致孟德尔病基因发现的步伐前所未有。为了应对分析和共享大型数据集的挑战，我们之前引入了基于web的协作GEM。应用软件。在这里，我们展示了使用GEM的结果。App近三年，并推出了下一代这一平台。首先,宝石。app已更名为GENESIS，因为它现在是“创世纪项目”（501c3）的一部分，这是一个非营利性基金会，致力于提供最好的技术，使研究科学家和连接患者和临床医生的基因组信息。其次，GENESIS （GEM.app）已发展到来自44个国家的近600名注册用户，他们共同完成了62个基因鉴定或发表了扩大表型/基因型相关性的研究。我们的用户驱动数据共享和配对概念现在是GENESIS中基因发现的主要原因。在许多这些发现中，来自世界各地的研究人员联系在一起，从而产生了成功查明解释患者疾病的特定基因突变所需的遗传证据。在这里，我们将概述通过GENESIS/GEM.app的数据共享功能实现的各种新颖见解。
Next-generation sequencing has lead to an unparalleled pace of Mendelian disease gene discovery in recent years. To address the challenges of analysis and sharing of large datasets, we had previously introduced the collaborative web-based GEM.app software. Here we are presenting the results of using GEM.app over nearly three years and introducing the next generation of this platform. Firstly, GEM.app has been renamed to GENESIS since it is now part of ‘The Genesis Project’ (501c3), a non-for-profit foundation that is committed to providing the best technology to enable research scientists and to connecting patients and clinicians to genomic information. Secondly, GENESIS (GEM.app) has grown to nearly 600 registered users from 44 countries, who have collectively achieved 62 gene identifications or published studies that have expanded phenotype/genotype correlations. Our concept of user driven data sharing and matchmaking is now the main cause for gene discoveries within GENESIS. In many of these findings, researchers from across the globe have been connected, which gave rise to the genetic evidence needed to successfully pinpoint specific gene mutations that explained patients’ disease. Here we present an overview of the various novel insights that have been made possible through the data sharing capabilities of GENESIS/GEM.app.