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Towards integrating NGS workflows into disease registries

Bellgard, M., Render, L., McCooke, J.K., Black, M., Baynam, G., Dawkins, H., Moolhuijzen, P., Barrero, R.A. and Hunter, A. (2014) Towards integrating NGS workflows into disease registries. In: Plant & Animal Genome Asia 2014, 19 - 21 May 2014, Grand Copthorne Waterfront Hotel, Singapore


Disease registries capture relevant patient data including clinical and molecular information. These information-rich resources are the basis for new policies, prioritisation of investments and research development efforts by relevant health stakeholders. The challenge of having over 6,000 rare human conditions highlights the need for establishing a Rare Disease Registry Framework (RDRF). Previously, we implemented a RDRF to simplify the deployment of registries for selected high priority rare conditions. More recently, we have developed a second generation RDRF which enables user-driven dynamic creation of patient registries without the assistance of a software developer. Data elements (DE) and ontologies are utilised to capture appropriate patient information. Users can now dynamically create DE to tailor a particular disease registry. One of the key DE that the system can capture are the results of high throughput Next Generation Sequencing (NGS) applications such as variant calls (SNPs and indels) derived from the analysis of patient’s whole genome/exome data. NGS DE. The new RDRF addresses an important component of the RD translational Roadmap. The Yabi analytic workflow environment primarily enables seamless and transparent access to heterogeneous high performance computing resources (HPC, cloud) and bioinformatics workflows. Researchers are able to use a user-friendly web-based environment to drag-and-drop tools to create sophisticated workflows. Yabi enables collaboration, data sharing and reuse of analysis workflows within and between geographically distributed groups.

Item Type: Conference Paper
Murdoch Affiliation(s): Centre for Comparative Genomics
Conference Website:
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