Solving the variant aggregation bottleneck to unlock genomic discovery from cohorts

As genomic datasets grow to tens or hundreds of thousands of samples, researchers face a significant roadblock: aggregating and genotyping variants from large cohorts is time-consuming, computationally burdensome, and increasingly difficult to scale with existing tools. For population studies, GWAS/PheWAS, clinical sequencing programs, and translational research in pharma, variant aggregation is not just a technical step — it's foundational to discovery. Without a scalable and iterative approach to genotyping an increasingly large number of samples, research programs risk bottlenecks that delay findings and inflate costs.

This webinar will demonstrate how Illumina DRAGEN Iterative gVCF Genotyper — a one-of-a-kind solution for high-throughput, scalable, and accurate variant aggregation — is designed specifically to overcome the limitations of legacy aggregation tools by enabling iterative analysis and batchwise processing without re-genotyping the full cohort. Attendees will learn how leading national genomics efforts — including programs lead by Genomics England (GEL) — are using DRAGEN Iterative gVCF Genotyper to power population-scale insight.

Whether for managing a national biobank or leading computational pipelines for a pharmaceutical or research consortium, this session will demonstrate how DRAGEN transforms variant aggregation from a bottleneck into a competitive advantage.

Attendees will learn:

• Why sample genotyping, reanalysis, and aggregation is a critical and often underestimated step in large-scale studies.
• Limitations of traditional aggregation tools, and how DRAGEN Iterative gVCF Genotyper was built to overcome them.
• How to deploy DRAGEN Iterative gVCF Genotyper for large-scale projects across cloud or high-performance computing (HPC) environments.
• How Genomics England uses iterative aggregation to power downstream research — unlocking insights not possible with traditional tools.
• How DRAGEN Iterative gVCF Genotyper enables seamless downstream analysis with tools like HAIL, PLINK, and Regenie.

Speakers

Catherine Snow, PhD
Product Manager
Genomics England

Zhuoyi Huang, PhD
Associate Principal Bioinformatics Scientist
Illumina

Ole Schulz-Trieglaff, PhD
Sr Staff Bioinformatics Scientist
Illumina

M-GL-03745