The bioinformatics group has developed computational pipelines and databases to analyze and visualize genomic sequence information efficiently and at scale, and currently analyzes and processes more than 100 terabases of DNA sequence per month.
The core capabilities offered by the bioinformatics platform include:
- Genetic variant detection
- Somatic mutation detection
- Mutation signature analysis
- Transcriptome analysis (including miRNAs and down to single cell resolution)
- Structural variant analysis
- Copy number variant analysis
- De novo genome assembly and annotation
- Genome methylation analysis
- Analysis of histone modifications
- ChIP-seq analysis
- Laboratory Information Management System (LIMS) maintenance
- Development and assistance with experimental design
These activities are carried out by dedicated teams of individuals who have world-class analytic expertise across our focus areas, and are supported by dedicated IT infrastructure and Quality Management teams to ensure smooth functioning of the group and data integrity.
The ability to acquire, analyze, securely store, publish, and distribute large data sets is fundamental to Platform operations. The Platform currently operates infrastructure that includes 2 secured data centres at BC Cancer. One centre consists of 500 nodes with ~12,000 hyper-threaded cores and the other houses 273 nodes and ~ 4,000 hyper-threaded cores. Each node is typically equipped with 16-48 Gb of RAM, with high-memory computers (~1.5 TB of RAM) providing capability for whole genome and whole transcriptome assembly. More than 14 PB of on-line disk capacity provides storage, with offline storage provided by an additional 15 PB of tape back-up.
The Bioinformatics groups makes certain software programs and scripts available in the GSC Bioinformatics Software Centre.