Software Development and Informatics
Clinical and translational use of genomic data
The Software Development and Informatics team both develops and makes use of novel methods and applications to analyze genomic and clinical datasets to support the interpretation of genomic data. A major interest is in using these tools and methods to provide definitive diagnoses in the case of Mendelian disease. We provide informatics and software support for the Institute as required, and provide tools for Clinical Genomics applications such as those used at The Smith Family Clinic for Genomic Medicine.
In addition to clinical application for rare disease we are also involved in the application of whole genome sequencing in a research setting to identify causative mutations in individuals with a variety of presumed single gene or complex disorders. We have a number of ongoing internal and external collaborations aimed at analyzing data from individuals, families or cohorts to uncover the presumed disease associated molecular changes. Goals are to not only identify causal variants, but also to identify molecular relationships that assist in the selection of new or repurposed treatments.
The team supports analysis of genomic sequencing data from the sequencer to the final clinical report converting raw sequencing data into clinically actionable information. Currently supported analyses include: DNA sequencing data alignment and variant calling, ChIP analysis, methylation analysis and RNA-seq analysis, as well as development and application of various methods for data QC, integration and visualization.