- Project Dates: From September 2013 to December 2015
- Project Leader: Dr. Paolo Missier (PI)
- Staff: Dr. Jacek Cala (investigator), Ms. Eldarina Wijaya (investigator)
- Sponsors: NIHR Newcastle Biomedical Research Centre, in collaboration with Microsoft Research
This is 2 year pilot project aimed at demonstrating the feasibility of a computing infrastructure that is capable of translating the potential benefits of high throughput sequencing into actual genetic diagnosis to health care professionals. Specifically, we aim to develop a secure working bioinformatic pipeline that can be housed on the cloud, including a user-friendly web-browser to allow clinicians to access and interpret whole exome. Developing this on the cloud will enable scalability across the NHS, and from whole exome to whole genome analysis. This will be central to the diagnostic approach in rare diseases.
Specific objectives include, (i) to provide mechanisms to rapidly and flexibly create new exome sequence data processing pipelines, and deploy them on a cloud in a scalable way; (ii) to develop search and integration capabilities across a constellation of variation databases and their clinical interpretation, and (iii) to provide a web-based interface to empower clinicians to perform tasks (i) and (ii).