Clinical Bioinformatics at Pathology Queensland
This talk will give an overview of human bioinformatics within the Genomics Discipline at Pathology Queensland, and outline where the service stands today. The service runs custom-built pipelines incorporating both open-source and commercial components for WGS, WES and panel testing. Together these support thousands of clinical cases each year. The talk will discuss the role of QC in delivering an accredited clinical genomics service, and the tools and processes the service has developed to support it. It will then reflect on the lessons learned over the last six years of building the bioinformatics component from a single role into what it is today, and close with where the service is heading next.
Bio
Wishva Herath leads the human bioinformatics team in the Genomics Discipline at Pathology Queensland, the NATA-accredited statewide diagnostic service. He joined as the first bioinformatician in the discipline and helped establish the service from the ground up, designing and building the custom NGS pipelines and processes.
Before Queensland, he built one of the earlier cloud-based NATA-compliant NGS workflows at the Monash Health Translation Precinct and worked on genome-wide CRISPR knockout screens at the Hudson Institute of Medical Research. He holds a PhD from the National University of Singapore, where his thesis was among the early uses of RNA-Seq to study trophoblast biology, and postdoctoral experience from the Genome Institute of Singapore in single-cell RNA-Seq.
