Igniting translational breakthroughs: How scalable informatics, AI, and Perturb-seq are transforming human genetics

Clinical genomics and population-scale studies are frequently addressed as separate fields—but the next era of discovery demands their convergence. By closing the loop between individual-level insights and large-cohort discoveries, we can accelerate both scientific understanding and clinical impact. This transformation is made possible by scalable infrastructure, integrated software platforms, and cutting-edge AI and informatics tools purpose-built for genomics.

In this educational session, Illumina experts explore how modern informatics platforms and state-of-the-art deep learning technologies are transforming human genetics—spanning routine clinical research workflows to national-scale initiatives.

Rami Mehio, VP, Head of Global Software and Informatics, will share how Illumina’s enterprise informatics architecture enables unified, secure, and scalable analysis across institutions. Attendees will learn how platforms like Illumina Connected Analytics and DRAGEN informatics streamline data sharing, support iterative reanalysis and cohort aggregation, and connect clinical and research domains—allowing discoveries to flow bidirectionally between sample-level insights and population studies.  

In the second talk, Dr. Kyle Kai-How Farh, Distinguished Scientist at the Illumina Artificial Intelligence Lab, will highlight the transformative power of deep learning in accelerating genomic discovery. Topics will include AI-driven approaches to variant interpretation (including non-coding and variants of unknown significance), AI-powered discovery in biobank-scale cohorts, and downstream applications in drug target discovery. 

Together, these talks show how scalable informatics and AI are accelerating discovery, advancing interpretation, and connecting insights—unlocking the next wave of innovation in human genetics.

Speakers

Rami Mehio
Senior VP and General Manager
BioInsight, Illumina

Kyle Farh, MD, PhD
VP and Distinguished Scientist, Illumina Artificial Intelligence Lab
Illumina