AI-Assisted Strategies for Rare Disease Genomic Interpretation

As whole genome (and whole exome) sequencing becomes the cornerstone of rare disease clinical research, the need for scalable, accurate, and explainable interpretation frameworks is more urgent than ever.

This webinar, hosted in collaboration with the NHS North West Genomic Laboratory (NWGLH), explores how Emedgene and Illumina Genomic AI are transforming variant interpretation workflows across clinical research settings.

Join Drs. Ronnie Wright (NWGLH) and Clare Logan (Illumina Clinical Solutions) as they share real-world insights from the NWGLH implementation of Emedgene for rare disease analysis. The session will cover:

• NWGLH's evaluation and implementation strategy for AI-assisted software and impact on NHS services
• Illumina’s collaboration with NWGLH and the role of explainable AI in Emedgene
• Demonstration of high-accuracy, high-efficiency variant calling, triage and interpretation workflows across multiple variant types: SNVs, indels, CNVs, SVs, STRs, and mtDNA
• Alignment of AI-assisted interpretation with published best practices

This session is ideal for lab directors and variant interpretation scientists seeking to align AI-assisted analysis with published best practices to accelerate their WGS/WES workflows with AI.

Join the speakers live:

8 Oct, 14:00 CEST
REGISTER BELOW

The recording will be provided to registrants 2 weeks following the event.

M-EMEA-01888