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As clinical testing shifts away from targeted sequencing and WES, high-accuracy, cost-effective Whole Genome Sequencing (WGS) has emerged as the new gold standard. Join us for a deep dive into how integrated genomic and transcriptomic workflows are improving diagnostic yields in prenatal and somatic testing, and how the ultra-high throughput sequencer DNBSEQ-T7+ is making the $100 genome a scalable reality. 

Talk 1: Precision in Practice

Genome and Transcriptome Sequencing for Constitutional and Somatic Diagnoses

In this session, we explore the shift toward a new paradigm in genomic testing. We will discuss the integration of WGS, optical genome mapping, and transcriptome sequencing to identify both small and structural variants with unprecedented clarity.

Key Takeaways:

  • The clinical advantages of adopting a WGS-first paradigm. 
  • Implementing complementary methodologies to “do genomic testing right.” 
  • Real-world applications in prenatal and somatic diagnostic cases. 
  • Strategies for maintaining an upgradable testing architecture to minimize long-term costs. 

Talk 2: Engineering The Future

Scaling the $100 Genome: Maximizing Throughput and Accuracy with the DNBSEQ-T7+

Accuracy and cost are no longer a trade-off. This technical session focuses on the capabilities of the DNBSEQ-T7+ and how its massive throughput enables laboratories to scale their operations without compromising data integrity. 

Speakers:

Peter Nagy

Chief Medical Officer, Praxis Genomics

David Du

Director, Product Management, Complete Genomics

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