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- W3203043990 abstract "ABSTRACT B-cell acute lymphoblastic leukemia (B-ALL) is often driven by chromosome translocations that result in recurrent and well-studied gene fusions. Currently, fluorescent in-situ hybridization probes are employed to detect candidate translocations in bone marrow samples from B-ALL patients. Recently Hi-C, a sequencing-based technique originally designed to reconstruct the three-dimensional architecture of the nuclear genome, was shown to effectively recognize structural variants. Here, we demonstrate that Hi-C can be used as a genome-wide assay to detect translocations and other structural variants of potential clinical interest. Structural variants were identified in both bone marrow and peripheral blood samples, including an ETV6-RUNX1 translocation present in one pediatric B-ALL patient. Our report provides proof-of-principle that Hi-C could be an effective strategy to globally detect driver structural variants in B-ALL peripheral blood specimens, reducing the need for invasive bone marrow biopsies and candidate-based clinical tests." @default.
- W3203043990 created "2021-10-11" @default.
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- W3203043990 date "2021-10-04" @default.
- W3203043990 modified "2023-09-30" @default.
- W3203043990 title "Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients" @default.
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- W3203043990 doi "https://doi.org/10.1101/2021.10.01.21264442" @default.
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