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A framework for the clinical implementation of optical genome mapping in hematologic malignancies

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dc.contributor.author Levy, Brinn
dc.contributor.author Kanagal-Shamanna, Rashmi
dc.contributor.author Sahajpal, Nikhil S.
dc.contributor.author Neveling, Kornelia
dc.contributor.author Rack, Katrina
dc.contributor.author Dewaele, Barbara
dc.contributor.author Olde Weghuis, Daniel
dc.contributor.author Stevens-Kroef, Marian
dc.contributor.author Puiggros Metje, Anna Maria
dc.contributor.author Mallo, Mar
dc.contributor.author Clifford, Benjamin
dc.contributor.author Mantere, Tuomo
dc.contributor.author Hoischen, Alexander
dc.contributor.author Espinet Solà, Blanca
dc.contributor.author Kolhe, Ravindra
dc.contributor.author Solé, Francesc
dc.contributor.author Raca, Gordana
dc.contributor.author Smith, Adam C.
dc.date.accessioned 2024-09-27T06:20:51Z
dc.date.available 2024-09-27T06:20:51Z
dc.date.issued 2024
dc.identifier.citation Levy B, Kanagal-Shamanna R, Sahajpal NS, Neveling K, Rack K, Dewaele B, et al. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 Apr;99(4):642-61. DOI: 10.1002/ajh.27175
dc.identifier.issn 0361-8609
dc.identifier.uri http://hdl.handle.net/10230/61252
dc.description.abstract Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information in certain cases. Since OGM consolidates the diagnostic benefits of multiple costly and laborious tests (e.g., karyotyping, fluorescence in situ hybridization, and chromosomal microarrays) in a single cost-effective assay, many clinical laboratories have started to consider utilizing OGM. In 2021, an international working group of early adopters of OGM who are experienced with routine clinical cytogenomic testing in patients with hematological neoplasms formed a consortium (International Consortium for OGM in Hematologic Malignancies, henceforth "the Consortium") to create a consensus framework for implementation of OGM in a clinical setting. The focus of the Consortium is to provide guidance for laboratories implementing OGM in three specific areas: validation, quality control and analysis and interpretation of variants. Since OGM is a complex technology with many variables, we felt that by consolidating our collective experience, we could provide a practical and useful tool for uniform implementation of OGM in hematologic malignancies with the ultimate goal of achieving globally accepted standards.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartof Am J Hematol. 2024 Apr;99(4):642-61
dc.rights © 2024 The Authors. American Journal of Hematology published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/
dc.subject.other Sang--Malalties
dc.title A framework for the clinical implementation of optical genome mapping in hematologic malignancies
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1002/ajh.27175
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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