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May 14, 2026CancersOpen Access

Comparative Evaluation of Comprehensive DNA and RNA Sequencing Platforms with Subsequent Clinical Validation for Hematolymphoid Malignancies

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Authors

JPJulia N.C. ParlowNSNicolas Salcedo-PorrasFAFatma AlBulushi

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Overview

Randomized trial compares DNA and RNA sequencing platforms for genomic profiling in hematolymphoid malignancies, indicating robust performance and clinical validation.

Key Points

  • To evaluate and clinically validate two comprehensive NGS platforms for genomic profiling of hematolymphoid malignancies.
  • Compared Illumina PanHeme DNA panel and SOPHiA Genetics Community Myeloid Solution using 24 bone marrow specimens.
  • Conducted full analytical validation of the selected panel with 60 specimens.
  • Performed clinical validation of the Illumina PanHeme DNA panel and complementary RNA Exome panel.
  • Both NGS panels showed excellent concordance for SNVs and indels, with comparable performance.
  • Final selection favored the Illumina assay due to panel content and cost considerations.
  • RNA Exome panel detected all expected fusion transcripts, while CNV detection had variable results.

Cite This Study

Parlow et al. (2026) studied this question.

synapsesocial.com/papers/6a05680ea550a87e60a206a9https://doi.org/10.3390/cancers18101565
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Also Consider

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

  1. 1Comparative Evaluation of Comprehensive DNA and RNA Sequencing Platforms with Subsequent Clinical Validation for Hematolymphoid Malignancies2026
  2. 2Abstract 4628: Validation of an automated, scalable comprehensive genomic profiling assay for hematologic malignancies2024 · 1 citations
  3. 3Abstract 3834: Performance validation of a next generation sequencing myeloid assay on an integrated nucleic acid purification and sequencing system2026
  4. 4Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies2024 · 3 citations
  5. 5Abstract 3242: Integrated long-read target enrichment and comprehensive genomic profiling for hematologic malignancies using the SureSelect Cancer Pan Heme assay2026