Centre for Population Genomics

A national large-scale automated reanalysis program

(PI: Professor Zornitza Stark, Murdoch Children’s Research Institute)

Reanalysing existing genomic data over time significantly increases diagnosis due to improvements in knowledge and analysis methods, but is currently limited due to reliance on manual processes. The CPG is collaborating on this MCRI led project, that aims to develop, apply, and evaluate a program for automating and scaling up the reanalysis process so that large numbers of undiagnosed rare disease patients can benefit nationally now and into the future. Find out more here.