Department of Genetics, University of Leicester, University Road, Leicester, United Kingdom.
Hum Mutat. 2011 May;32(5):543-50. doi: 10.1002/humu.21469. Epub 2011 Mar 22.
Explosive growth in the generation of genotype-to-phenotype (G2P) data necessitates a concerted effort to tackle the logistical and informatics challenges this presents. The GEN2PHEN Project represents one such effort, with a broad strategy of uniting disparate G2P resources into a hybrid centralized-federated network. This is achieved through a holistic strategy focussed on three overlapping areas: data input standards and pipelines through which to submit and collect data (data in); federated, independent, extendable, yet interoperable database platforms on which to store and curate widely diverse datasets (data storage); and data formats and mechanisms with which to exchange, combine, and extract data (data exchange and output). To fully leverage this data network, we have constructed the "G2P Knowledge Centre" (http://www.gen2phen.org). This central platform provides holistic searching of the G2P data domain allied with facilities for data annotation and user feedback, access to extensive G2P and informatics resources, and tools for constructing online working communities centered on the G2P domain. Through the efforts of GEN2PHEN, and through combining data with broader community-derived knowledge, the Knowledge Centre opens up exciting possibilities for organizing, integrating, sharing, and interpreting new waves of G2P data in a collaborative fashion.
基因型-表型(G2P)数据的爆炸式增长需要我们齐心协力解决由此带来的后勤和信息学挑战。GEN2PHEN 项目就是这样一项努力,其广泛的策略是将不同的 G2P 资源联合成一个混合的集中式联邦网络。这是通过一个集中在三个重叠领域的整体策略来实现的:数据输入标准和管道,通过这些标准和管道提交和收集数据(数据输入);存储和管理广泛多样数据集的联邦、独立、可扩展且可互操作的数据库平台(数据存储);以及用于交换、组合和提取数据的数据格式和机制(数据交换和输出)。为了充分利用这个数据网络,我们构建了“G2P 知识中心”(http://www.gen2phen.org)。这个中央平台提供了对 G2P 数据领域的全面搜索,以及数据注释和用户反馈设施、广泛的 G2P 和信息学资源的访问,以及围绕 G2P 领域构建在线工作社区的工具。通过 GEN2PHEN 的努力,并通过将数据与更广泛的社区衍生知识相结合,知识中心为以协作方式组织、整合、共享和解释新一波 G2P 数据开辟了令人兴奋的可能性。