Optical Genome Mapping: Unrivaled Structural Variant Detection for Cancer Research and Precision Medicine

AACR 2021 - Spotlight Presentation
April 20, 2021
 

Dr. Yannick Delpu / Dr. Ben Finlay

The heterogeneity and magnitude of genomics rearrangements in cancer makes it refractory to complete characterization by current technologies such as NGS. Optical genome mapping (OGM) uniquely addresses such complexity by imaging megabase-long DNA molecules at up to 1600x coverage to discover SVs unbiased, genome-wide down to 1% VAF.
We demonstrate how DNA replication, long-range methylation phasing, biomarker discovery, and identification of new classes of SVs and structural signatures for patient stratification in precision medicine. Finally, we will review studies from around the world showing the potential of OGM to modernize current standards of care to improve patient management.