Featuring Dr. Nikhil Sahajpal of Greenwood Genetic Center, exploring how optical genome mapping (OGM) and long-read sequencing (LRS) are transforming rare disease diagnostics and uncovering previously missed genetic variants.
All tagged long-read sequencing
#393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap
Baylor Genetics’ Dr. Christine Eng and Chris Sands explore the power of whole genome sequencing when paired with multi-omic technology, like long-read sequencing, optical genome mapping, and RNA sequencing.