The informatics team supports QCMG research by providing a robust cyberinfrastructure to archive, manage, and analyze the vast amounts of second- and third-generation sequencing data that we produce.

Because high-throughput sequencing generates data at an unprecedented rate one of the most challenging tasks the team faces is migration of data from the sequencing machines to the research team and to a data storage facility. We have developed an automated pipeline that checks data integrity, archives data in a redundant, persistent hierarchical storage management system, and prepares raw sequencing data for mapping and alignment.

QCMG informaticians constantly strive to keep pace with the rapidly moving front of sequencing technology by developing new applications and workflows to analyze and visualize the data in the correct biological context. These include mapping of raw sequencing data using Bioscope and LifeScope, evaluation of the mapped data, and the detection of polymorphisms, insertions, deletions, inversions, translocations and copy number changes in genomic and transcriptomic libraries for both disease and normal samples. These tools can also be adopted by other groups as they acquire next-generation sequencing capabilities.

In order to ensure QCMG software is of the highest quality to meet the requirements of the research team we use task management software to coordinate team efforts, Subversion revision control software to manage the code repository, and formal coding guidelines for programming languages in use at the QCMG which include standards for requirements collection, code styles, unit testing, internal and external documentation, and distribution and deployment methods.