Diagnostic odysseys in rare disease often leave critical gaps in care. When standard approaches fall short, comprehensive genomic insight is essential to illuminating those blind spots. Join Dr. TJ Slavin, Chief Medical Officer, to explore how Ambry is setting a new bar for clinical whole genome sequencing, delivering unprecedented clarity, maximizing diagnostic yield, and driving equitable care across diverse patient populations.
In this session, you’ll discover how Ambry helps clinicians get the most out of every genome through:
-Broader Variant Calling: Capturing complex structural variants, intronic changes, and non-coding regions.
-Pangenome Graphical Mapping: Leveraging global genomic diversity to reduce reference bias and improve diagnostic accuracy for underrepresented populations.
-Functional Precision with RNA: Utilizing GenomeReveal™️ to clarify splicing impacts and convert VUSs into definitive answers.
-Continuous Care with Patient for Life™️: A first-of-its-kind, lab-driven reanalysis program that automatically updates patient reports as new gene-disease associations are discovered, ensuring genomic data continues to deliver lifelong clinical value so no rare disease patient is left behind.
*CEU credit is not available for this webinar.*