Abstract

The study of the genetics of diseases is entering a new era. Increasingly, genome-wide association studies are being used to identify positions within the human genome that have a link with a disease condition. The number of genomic locations studied means that High Performance Computing (HPC) solutions will have to increasingly be used in the statistical analysis of these data sets. Understanding the biomedical implications of the statistical analysis will also require heavy use of bioinformatics annotation tools. In this paper we report the outcome of developing HPC statistical genetics analysis codes for use by clinical researchers. Statistical results are automatically annotated with relevant biological information by calling multiple web-services orchestrated via pre-existing scientific workflows. Access to the HPC codes and bioinformatics annotation processes is via a client Workbench which hides as much as possible from the user the HPC infrastructure and bioinformatics annotation processes, whilst aiding the exchange of ideas and results between stakeholders.

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