Detection of structural variants (SVs) is essential in clinical and translational research. However, next-generation sequencing (NGS) methods fail to detect all classes and sizes of SVs, missing a significant amount of information critical to understanding disease biology.1-4
Studies have shown that short-read and long-read sequencing technologies miss a significant portion of SVs detected by OGM.2,3 Combine NGS with OGM to reveal a larger spectrum of genetic variants, generate a more complete profile of cancer and constitutional samples, and discover new actionable biomarkers.
Combining OGM and NGS for resolution that ranges from single base pairs to chromosome scale enables the most comprehensive variant detection and view of the genome, suitable for novel biomarker discovery and translational/clinical research applications.
Combine NGS and OGM to achieve a comprehensive view of the genome, across all variant types and sizes.
Combine the strengths of OGM and NGS to unveil a truly comprehensive genomic profile.
As this Nature study, from the Human Genome Structural Variation Consortium (HGSVC) demonstrates, OGM can reveal many SVs that are missed by NGS methods.1 Add OGM to your NGS data to achieve comprehensive genomic profile of samples, and maximize pathogenic findings
There are dozens of publications reporting SV findings from OGM that are missed by classical cytogenetics and NGS approaches. Here are a few quantitative examples:
Combine OGM and NGS to maximize variant detection across the full variant spectrum.
Molecular Characterization of Genome Structural Variants in Developmental Disorders: Comparison Between Optical Genome Mapping and Short Read Whole Genome Sequencing.Watch video
Clinical utility of combined optical genome mapping and a comprehensive genomic sequencing in a robust evaluation of hematological cancers.Watch video
|Cytogenetics in the management of Multiple Myeloma: the guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)||
October 24, 2023
|Agnès Daudignon, Wendy Cuccuini, Claire Bracquemart, et al.|
|Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia||
August 1, 2023
|Danielle Brandes, Layal Yasin, Karin Nebral, et al.|
|Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation||
June 12, 2023
|Pille Hallast, Peter Ebert, Mark Loftus, et al.|