Poster Presentation 39th Annual Lorne Genome Conference 2018

Personalized analytics to improve diagnostic rates in clinical sequencing. (#176)

Timo Lassmann 1 , Denise Anderson 1
  1. Telethon Kids Institure, Subiaco, WESTERN AUSTRALIA, Australia

'Personalized' or 'precision' medicine has been heralded as the next big revolution in healthcare. With the cost of DNA sequencing now low enough for whole genome sequencing (WGS) to be considered a standard diagnostic tool, WGS is expected to replace targeted gene and/or exome sequencing as the default protocol within the next five years. The major bottleneck remains clinical interpretation of the data - identifying the disease-causing variant or variants among thousands of benign or functionally unrelated variants. Here I will introduce a new approach integrating a patient's
phenotype with public 'whole body' gene expression data and sets of known disease annotations to generate patient specific prediction models.