Unlocking Comprehensive Genomic Insight: Clinical Blended Genome-Exome Sequencing in Practice
Samba Scientific
0:00 / 0:00
Unlocking Comprehensive Genomic Insight: Clinical Blended Genome-Exome Sequencing in Practice
26 просмотров · 3 мес. назад
Samba Scientific
202 подписчика
26 просмотров · 3 мес. назад
To realize the full impact of precision medicine across diverse populations, clinicians and researchers often face a difficult choice: Conduct studies leveraging the comprehensive breadth of Whole Genome Sequencing (WGS) or focus on the targeted depth achievable with Whole Exome Sequencing (WES). Clinical Blended Genome-Exome (cBGE) sequencing emerges as a transformative solution, combining both sequencing approaches into a single, highly scalable workflow. This session explores the technical mechanics behind this approach—utilizing low-coverage, PCR-free WGS coupled with high-depth WES on high-throughput platforms like the NovaSeq X Plus. By leveraging DRAGEN-powered informatics to deliver a unified suite of outputs, including CRAM files, VCFs, and CNV calls, this method provides superior genomic visibility without the traditional overhead of separate assays.
Join Broad Clinical Labs and a panel of distinguished clinical and research leaders for an in-depth exploration of how cBGE is redefining genomic inference and its impact on public health. This webinar explores technical theory and showcases real-world applications—including Heartgene’s Everygene program for expanding national access to cardiovascular genetic testing and the VA ProGRESS Study’s use of cBGE to power integrated risk models (P-CARE) for prostate cancer screening in Veterans. Participants will gain insight into a proven model for integrating testing, interpretation, and counseling to drive both patient and provider engagement at scale.
0:00 Introduction
2:38 Niall Lennon
31:00 Megan Sutton
49:05 Charles Brunette
57:13 Morgan Danowski
105:47 Q&A
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