Detecting broken, missing, rearranged, or extra chromosomes provides critical, actionable insights for cancer and genetic diseases, yet traditional cytogenetic methods fall short of discovering key chromosomal aberrations.
Reveal all chromosomal aberrations commonly detected by classical cytogenetics while significantly increasing pathogenic findings with a simpler workflow.
Multiple studies at renowned institutions worldwide show the same outcomes. OGM not only has a high correlation to results from traditional methods but also reveals additional actionable pathogenic abnormalities.1-8
European multi-site consortium, aimed at evaluating OGM’s performance as compared to classical methods (microarray and karyotyping), across 85 constitutional samples. Nearly 100 chromosomal aberrations were evaluated, many mapping to complex regions of the human genome, and involved in repeat-mediated microdeletion/microduplication syndromes.
Institutions involved:
Author’s Conclusion:
“These results highlight the potential for OGM to provide a cost-effective and easy-to-use alternative that would allow comprehensive detection of chromosomal aberrations and structural variants, which could give rise to an era of “next-generation cytogenetics.”
OGM was proven to detect multiple categories of SVs with 100% concordance compared to classical methods.
American multi-center, double-blinded study, aimed to evaluate OGM’s performance, as compared to classical methods (karyotyping, microarray, and FISH), across 331 constitutional samples.
Institutions involved:
Outstanding performance for OGM across all types of SVs evaluated.
OGM was proven to not only achieve 100% concordance with classical cytogenetic methods, but also to unveil new pathogenic aberrations in 46% of a total of 94 amniocentesis samples evaluated.
Author’s statement:
“We report the feasibility and relative ease of implementing OGM for prenatal assessment compared to classical methods with the platform, demonstrating high robust technical and analytical performance and recommend OGM as a first-tier assay in prenatal settings.”
Large-scale study shows 100% concordance between OGM and cytogenetics in prenatal cohort with additional findings.
Learn how OGM meets the challenges of new blood cancer classifications.
Featuring Dr. Adam Smith, University Health Network, Toronto, Ontario, Canada
Watch On-demandHear perspectives from a pathologist and an oncologist on the utility of OGM for evaluation of myelodysplastic syndromes.
Featuring Dr. Rashmi Kanagal-Shamanna and Dr. Guillermo Garcia-Manero, MD Anderson Cancer Center
Watch On-demand
| title | Source | Authors |
|---|---|---|
| Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia | September 21, 2023 | Brandes, Danielle; Yasin, Layal; Nebral, Karin; Ebler, Jana; Schinnerl, Dagmar; Picard, Daniel; Bergmann, Anke; Alam, Jubayer; Köhrer, Stefan; Haas, Oskar A.; Attarbaschi, Andishe; Marschall, Tobias; Stanulla, Martin; Borkhardt, Arndt; Brozou, Triantafyllia; Fischer, Ute; Wagener, Rabea |
| Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation | June 12, 2023 | Pille Hallast, Peter Ebert, Mark Loftus, Feyza Yilmaz, Peter A. Audano, Glennis A. Logsdon, Marc Jan Bonder, Weichen Zhou, Wolfram Hoeps, Kwondo Kim, Chong Li, Philip C Dishuck, David Porubsky, Fotios Tsetsos, Jee Young Kwon, Qihui Zhu, Katherine M. Munson, Patrick Hasenfeld, William T. Harvey, Alexandra P. Lewis, Jennifer Kordosky, Kendra Hoekzema, The Human Genome Structural Variation Consortium (HGSVC), Jan O. Korbel, Chris Tyler-Smith, Evan E. Eichler, Xinghua Shi, Christine R Beck, Tobias Marschall, Miriam K. Konkel, Charles Lee |
| Babesia duncani multi-omics identifies virulence factors and drug targets | April 13, 2023 | Pallavi Singh, Stefano Lonardi, Qihua Liang, Pratap Vydyam, Eleonora Khabirova, Tiffany Fang, Shalev Gihaz, Jose Thekkiniath, Muhammad Munshi, Steven Abel, Loic Ciampossin, Gayani Batugedara, Mohit Gupta, Xueqing Maggie Lu, Todd Lenz, Sakshar Chakravarty, Emmanuel Cornillot, Yangyang Hu, Wenxiu Ma, Luis Miguel Gonzalez, Sergio Sánchez, Karel Estrada, Alejandro Sánchez-Flores, Estrella Montero, Omar S. Harb, Karine G. Le Roch, Choukri Ben Mamoun |
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