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 optical genome mapping
#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.
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
See how tools like long read sequencing, RNA sequencing, MAVEs, and AI are ethically transforming WGS to make patients lives better.
#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.
#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy
Praxis Genomics’ Chief Medical Officer explains how these genetic technologies can provide advantages over traditional testing methods.