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 Nikhil Sahajpal
#362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
Greenwood Genetics Center’s Dr. Nikhil Sahajpal reveals how OGM is changing clinical diagnostics from missed structural variants to new gene disease association.