Human genomics analysis interface for FaceBase 2

摘要 现在有几个与颅面研究相关的大型人类基因组学数据库，其中包括部分由第一个FaceBase财团资助的多个数据库。从这种数据库中直接访问个体水平数据可能会很麻烦，因此当前的项目寻求使相关基因组数据的分析可供FaceBase用户使用，而不发布个人水平数据。目前的项目有三个主要目标，以开发一个用于FaceBase2的基因组分析界面。 目标1：开发一个软件界面，使FaceBase用户能够将人类遗传学分析软件(如plink)应用于来自颅面研究的人类基因组数据，并通过FaceBase 2 Hub访问这些工具。注：FaceBase用户将无法获得任何个人级别的数据；用于分析的数据将位于FaceBase 2 Hub的安全位置。这些工具的目的是使FaceBase用户能够探索基因组数据(例如GWAS、测序)，以便提出研究问题或决定是否从其家庭数据库(大多数情况下为DBGaP)下载基础数据。目标2：确定DBGaP上和/或颅面研究社区内的相关基因组数据，然后将其并入上述系统(即，无法通过FaceBase访问个人水平的数据，只能查询/分析数据)。将提供的一些数据是作为FaceBase I Speech项目(Beaty、Spritz和Weinberg/Marazita Speech项目)的一部分创建的。目标3：创建分析结果数据集，以便在FaceBase上可用，并从人类基因组结果中为UCSC基因组浏览器(或FaceBase 2 Hub指定的其他存储库)提供数据跟踪。这将使这些结果立即提供给FaceBase用户，并通过基因组浏览器或其他集中分析结果数据库提供给更广泛的受众。

ABSTRACT There are now several large human genomics databases relevant to craniofacial research, including multiple databases funded in part by the first FaceBase consortium. Direct access to the individual level data from such databases can be cumbersome, therefore the current project seeks to make analysis of pertinent genomics data available to FaceBase users without releasing the individual level data. The current project has three major goals in order to develop a genomics analysis interface for FaceBase 2. GOAL 1: To develop a software interface that will enable FaceBase users to apply human genetics analysis software (e.g. PLINK) to human genomics data from craniofacial research, with access to these tools through the FaceBase 2 Hub. NOTE: no individual level data will be available to FaceBase users; the data for analysis will be located on a secure location of the FaceBase 2 Hub. The purpose of these tools is to allow FaceBase users to explore genomics data (e.g. GWAS, sequencing) in order to ask research questions or to decide whether to download the underlying data from its home data repository (dbGaP in most cases). GOAL 2: To identify pertinent genomics data on dbGaP, and/or within the craniofacial research community that would then be incorporated into the above system (i.e. no access to individual level data through FaceBase, only the ability to query/analyze the data). Some of the data to be made available was created as part of FaceBase I spoke projects (Beaty, Spritz, and Weinberg/Marazita spoke projects). GOAL 3: To create analysis results datasets to make available on FaceBase, and also data tracks for the UCSC genome browser (or other repositories designated by the FaceBase 2 Hub) from the human genomics results. This will make such results immediately available to FaceBase users, and also available to a wider audience through the genome browser or other centralized analysis results databases.