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December 8, 2025BloodOpen Access

Combining next-generation sequencing and optical genome mapping techniques to analyze genomic abnormalities in marginal zone lymphoma

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Authors

JRJun RaoLGLi Gao

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Overview

Integration of next-generation sequencing and optical genome mapping reveals significant genomic instability in MZL.

Key Points

  • Genomic instability was significantly higher in stage IV marginal zone lymphoma, highlighting its importance in disease progression.
  • Next-generation sequencing detected 95.7% of patients with genetic variants, primarily missense mutations in key tumor suppressors.
  • Observational analysis employing both next-generation sequencing and optical genome mapping enhanced the detection of chromosomal variations.
  • These findings support the clinical significance of combining genomic techniques, suggesting stronger diagnostic tools for early intervention.

Cite This Study

Rao et al. (2025) studied this question.

synapsesocial.com/papers/69362f7f4fa91c937236e57ehttps://doi.org/10.1182/blood-2025-3535
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