Development and deployment of strategies to aid genome interpretation

ACMG Corporate Partner Insights Session

Genome sequencing is becoming a first-tier genetic test for individuals with a suspected rare disorder. However, the increased volumes create challenges and bottlenecks for laboratories, particularly for genome interpretation and reporting. These challenges necessitate the development of tools and strategies to increase throughput and ultimately improve accuracy.

The core theme of this talk is to discuss practical approaches to reduce time for genome interpretation and increase yield, drawing on the real-world experience at SickKids Genome Diagnostics Laboratory. We focus on two complementary strategies: artificial intelligence (AI) assisted genome interpretation and networked data sharing and discuss ongoing development and challenges with implementation in a genomics laboratory.

Christian Marshall, PhD, FACMG, FCCMG
Molecular Laboratory Dir, Div of Genome Diagnostics, Dept of Pediatric Laboratory Medicine
The Hospital for Sick Children, Toronto, Canada

Livia Loureiro, PhD
Sr Staff Medical Science Liaison, Medical Affairs
Illumina

This webinar will be recorded on March 11 and will be made available on demand shortly thereafter.