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December 8, 2025Blood

Targeted long-read sequencing with adaptive sampling in multiple myeloma: A pilot study toward a unified diagnostic platform

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Authors

BABeñat AricetaSVSaioa VicenteMCMarı́a José Calasanz

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Overview

Pilot study demonstrates adaptive sampling improves genomic profiling and detection of alterations in multiple myeloma.

Key Points

  • This research aims to explore the potential of targeted long-read sequencing using adaptive sampling for comprehensive genomic profiling in multiple myeloma.
  • Designed an adaptive sampling panel covering approximately 6% of the genome targeting key genomic regions.
  • Utilized genomic DNA from CD138+ cells of 17 multiple myeloma patients for sequencing.
  • Employed ONT's PromethION platform with Adaptive Sampling enabled for genomic analysis.
  • Achieved molecular karyotyping through whole-genome characterization of all patients.
  • Identified diverse chromosomal alterations in multiple myeloma patients, including specific deletions and amplifications.
  • Detected pathogenic variants in 17 patients using long-read sequencing that were missed by traditional methods.

Cite This Study

Ariceta et al. (2025) studied this question.

synapsesocial.com/papers/69362f484fa91c937236d6e6https://doi.org/10.1182/blood-2025-6121
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Comprehensive DNA/RNA-based targeted sequencing for molecular karyotyping and clonality assessment in newly diagnosed multiple myeloma patients2025
  2. 2Abstract 1067: Whole genome sequencing of multiple myeloma genomes with a novel clinical assay enables identification of genetic alterations underlying immunotherapy resistance2026
  3. 3Comprehensive characterization of multiple myeloma genomes from bone marrow or peripheral blood with a novel clinical assay enables identification of resistance mechanisms2025
  4. 4Single-cell DNA sequencing uncovers synergistic co-mutations in multiple myeloma2025
  5. 5Replacing FISH with a comprehensive integrated approach for tumor genotyping and immune monitoring in multiple myeloma: The flagship study2025 · 1 citations