Скачать или смотреть A New Paradigm for Genomic Diagnosis | Dr. Peter Nagy, Praxis Genomics | ASHG2023

In this ASHG2023 presentation, Dr. Peter Nagy, Chief Medical Officer at Praxis Genomics, discusses how advanced genomic technologies, powered by Complete Genomics DNBSEQTM sequencing and the DNBSEQ-T7 platform are enabling a transformative approach to genetic diagnostics.

What you’ll learn:
Why traditional methods like microarrays, targeted panels, and generic WGS often fail to deliver definitive diagnoses for rare diseases and cancer.
How DNBSEQ-T7, with its high-throughput, PCR-free sequencing and flexible flow cell operation, supports a stepwise upgrade model: from exome to WGS to optical genome mapping (OGM) and transcriptome analysis.
How combining WGS with OGM reveals complex structural variants-like insertions and duplications-missed by other platforms.
How this integrated workflow saves time, minimizes re-sampling, and offers financially sustainable diagnostics by enabling reanalysis as clinical knowledge evolves.

With up to 23.2B reads per run, ultra-fast processing, and unmatched structural resolution, the DNBSEQ-T7 platform is at the forefront of enabling comprehensive and accessible clinical genomics.