Shared genomics: A platform for emerging interpretation of genetic epidemiology

摘要

The study of the genetics of diseases has been revolutionised by the advent of genome-wide genotyping technologies. Increasingly, genome-wide association studies are being used to identify positions within the human genome that have a link with a disease condition. These new data sets require the use of distributed resources, both for the statistical analysis and for the interpretation of the analysis results. Aiding the latter will be be crucial for the statistical analysis process to be successful. In this paper we report our experiences in developing a user-friendly High Performance Computing (HPC) statistical genetics analysis platform for use by clinical researchers. Specifically, we report work on supporting the interpretation process through the automatic annotation of the statistical analysis results with relevant biological information. Retrieval of the biological annotation is performed by high-volume invocation of multiple web-services orchestrated via pre-existing scientific workflows. We also report work on developing tools to aid the capture and replay of the processes performed by a user when exploring analysis results.