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December 8, 2025Blood

Clinical use of genome-wide hi-c sequencing for assessment of structural variants in diffuse large B-cell lymphoma

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Authors

ASAnthony D. Schmitt

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Overview

Case study reveals copy number gains in DLBCL with polysomy, indicating uso of Hi-C sequencing for variant analysis.

Key Points

  • The study aims to utilize whole-genome Hi-C sequencing for structural variant assessment in diffuse large B-cell lymphoma.
  • Case analysis of a 70-year-old male with DLBCL and FISH findings
  • Whole-genome Hi-C sequencing performed on FFPE sections
  • Structural variant analysis conducted using HiCUP and hic_breakfinder
  • Hi-C sequencing identified a fusion involving chromosome 10
  • Detected copy number gains on chromosomes 4, 7, and noted polysomy
  • Amplification of key genes associated with aggressive DLBCL phenotype

Cite This Study

Anthony D. Schmitt (2025) studied this question.

synapsesocial.com/papers/69362f5d4fa91c937236dc20https://doi.org/10.1182/blood-2025-7862
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