Novel Web-based Tools for Collaborative Community-Driven Genome Feature Annotatio

描述(由申请人提供)：该项目的总体目标是开发一个灵活和可扩展的基础设施，使给定有机体的整个群落能够轻松地为基因组注释过程做出贡献。为此，我们正在整合并显著增强现有GMOD工具的功能：Apollo，用于创建与DNA序列上特定位置绑定的基因组特征注释；分布式注释系统(DAS)协议和相关软件，支持研究人员通过互联网交换注释；以及通用基因组浏览器(GBrowse)，用于在交互式网页上显示基因组注释。我们正在将这些应用程序结合在一起，并在它们的基础上创建一个新的基于网络的基础设施，该基础设施将为更广泛的用户社区提供强大、易于使用的工具，用于协作、社区驱动的基因组特征注释。 与公共卫生相关：随着被测序的整个基因组的数量增加，这些基因组的注释-存在哪些基因、启动子和增强子位置以及其他特征-已经成为限制速度的步骤。当前的注释不可靠，很难比较，在某些情况下甚至不存在。这产生了严重的后果，因为它降低了这些基因组序列的效用，特别是当它们被用来提高人类基因组的注释标准时，这对最大限度地利用人类基因组至关重要。

DESCRIPTION (provided by applicant): This project's overarching aim is to develop a flexible and extensible infrastructure that will allow the entire community of a given organism to easily contribute to the genome annotation process. We are doing this by integrating and significantly enhancing the functionality existing GMOD tools: Apollo, used for the creation of genomic feature annotations tied to specific locations on the DNA sequence; the Distributed Annotation System (DAS) protocol and associated software, which supports the exchange of annotations over the Internet between researchers; and Generic Genome Browser (GBrowse), used for displaying genome annotations on interactive Web pages. We are combining these applications and building on them to create a novel web-based infrastructure that will offer robust, easy-to-use tools for collaborative, community-driven genome feature annotation by a much broader community of users. PUBLIC HEALTH RELEVANCE: As the number of whole genomes being sequenced increases the annotation of these genomes-what genes are present, the locations of promoter and enhancer sites, and other features-has become the rate-limiting step. Current annotations are unreliable, difficult to compare, and in some cases non-existent. This has serious consequences, because it diminishes the utility of these genome sequences, particularly as they are used for improving the standard of annotation of the human genome which is essential for its maximal exploitation.