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December 8, 2025Blood

Comprehensive and rapid detection of genomic alterations in pediatric leukemias using whole-genome sequencing with adaptive sampling

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Authors

ASAdam ShlienDSDaniel SinnettVLVincent‐Philippe Lavallée

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Overview

Observational analysis reveals that whole-genome sequencing improves risk stratification in pediatric leukemias, indicating adaptive sampling's potential benefits.

Key Points

  • AS-WGS identified genomic alterations in pediatric leukemias with nearly 100% accuracy in a single test.
  • Performance showed a mean on-target coverage of 160X, detecting both fusion genes and structural variants efficiently.
  • Open-source pipeline Oncoseq streamlines the analysis of genomic information, improving clinical decision timelines.
  • Findings suggest adaptive sampling can enhance the sensitivity of detecting subclonal alterations in a timely manner.

Cite This Study

Shlien et al. (2025) studied this question.

synapsesocial.com/papers/69362f484fa91c937236d66chttps://doi.org/10.1182/blood-2025-4337
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Also Consider

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  1. 1Feasibility and utility of unmatched whole-genome sequencing (uWGS) for pediatric acute leukemias: An analysis of leukemia precision-based therapy (LEAP) study samples2025
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  3. 3ALTseqTM, a rapid (< 48 hours) whole genome sequencing clinical test for Acute Myeloid Leukemia (AML)2025
  4. 4Rapid diagnosis of acute leukemia with integrated epigenetic and genetic profiling2025 · 2 citations
  5. 5A prospective Study of whole genome sequencing for genomic profiling and risk determination in MDS2025