Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications Article Swipe
Brynn Levy
,
Jie Liu
,
M. Anwar Iqbal
,
Barbara R. DuPont
,
Nikhil Sahajpal
,
Monique Ho
,
Jingwei Yu
,
Sam J. Brody
,
Heather Mason‐Suares
,
Mythily Ganapathi
,
Aleksandar Rajkovic
,
Teresa A. Smolarek
,
Reha M. Toydemir
,
Peter Bui
,
Ravindra Kolhe
,
Roger E. Stevenson
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.12.22.23300469
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.12.22.23300469
Optical genome mapping (OGM) is an emerging technology with great potential for prenatal diagnosis. OGM can identify and resolve all types of balanced and unbalanced cytogenomic abnormalities in a single test, which are typically assessed by multiple standard of care (SOC) methods including karyotyping, fluorescence in situ hybridization and chromosomal microarray. To assess OGM’s viability as an alternative to conventional SOC testing, a comprehensive clinical research study was conducted across multiple sites, operators, and instruments to evaluate its accuracy and clinical utility. This report provides an update for the phase 2 results of the ongoing multisite evaluation and validation study evaluating OGM for prenatal applications. In phase 1, 123 prenatal cases were assessed by OGM, and in phase 2, 219 retrospective and prospective prenatal cases have been evaluated. For 71% of cases, at least two SOC tests were performed. The study found that OGM had an overall accuracy of 99.6% and positive predictive value of 100% when compared to all cytogenetic SOC results. With its standardized workflow, cost-effectiveness, and high-resolution cytogenomic analysis, OGM shows great promise as an alternative technology that uses a single assay to consolidate the multiple SOC tests usually used for prenatal cytogenetic diagnosis.
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- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2023.12.22.23300469
- https://www.medrxiv.org/content/medrxiv/early/2023/12/26/2023.12.22.23300469.full.pdf
- OA Status
- green
- References
- 20
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4390225827
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- OpenAlex ID
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https://openalex.org/W4390225827Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2023.12.22.23300469Digital Object Identifier
- Title
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Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal ApplicationsWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-12-26Full publication date if available
- Authors
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Brynn Levy, Jie Liu, M. Anwar Iqbal, Barbara R. DuPont, Nikhil Sahajpal, Monique Ho, Jingwei Yu, Sam J. Brody, Heather Mason‐Suares, Mythily Ganapathi, Aleksandar Rajkovic, Teresa A. Smolarek, Reha M. Toydemir, Peter Bui, Ravindra Kolhe, Roger E. StevensonList of authors in order
- Landing page
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https://doi.org/10.1101/2023.12.22.23300469Publisher landing page
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https://www.medrxiv.org/content/medrxiv/early/2023/12/26/2023.12.22.23300469.full.pdfDirect link to full text PDF
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YesWhether a free full text is available
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greenOpen access status per OpenAlex
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https://www.medrxiv.org/content/medrxiv/early/2023/12/26/2023.12.22.23300469.full.pdfDirect OA link when available
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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