Abstract: At 150 Whole Human Genomes every 3 days, scaling up to handle Illumina's HiSeq X Ten population-scale genome sequencing factory has many implications. Our group in the Kinghorn Centre for Clinical Genomics at the Garvan Institute are addressing the challenges of analysing and storing 18000 human genomes each year, together with our plans for building a Genome Variant Store to correlate genome variants with phenotypical information. My talk will include core software systems including our LIMS used in our sequencing laboratory, SeqWare for the running and management of analytical pipelines as well as Alfred, our own software application, that oversees everything from sample receipt to the management of Quality Control events and the return of results to users in both research and clinical settings. I will also discuss our software development process of Continuous Integration that allows us to update our software systems multiple times daily, while ensuring that upgrades are not introducing new and unforeseen problems. Finally, I intend discussing our infrastructure, both in-house and external, which we will use in order to ensure the project's success.
http://www.garvan.org.au/research/clinical-genomics/warkap