Human genomics analysis interface for FaceBase 2

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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.