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Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.

Anna Bekő, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard-Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár

The Journal of pathologyOct 1, 2026PMID 42557824doi:10.1002/path.70096 PMC13576893Journal ArticlepubmedProvenance
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PubMed
Retrieved
Oct 1, 2026
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normalized (units and labels harmonized; values unchanged)
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ING-PUBMED-20261001-000001
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Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B-cell acute lymphoblastic leukemia (B-ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic…

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