{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T03:51:21Z","timestamp":1789012281812,"version":"build-2803163510"},"reference-count":21,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"accepted":{"date-parts":[[2021,11,22]]},"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>\n                    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 used 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\n                    <jats:italic>ETV6\u2013RUNX1<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1101\/mcs.a006157","type":"journal-article","created":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T14:50:23Z","timestamp":1637765423000},"page":"a006157","source":"Crossref","is-referenced-by-count":22,"title":["Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients"],"prefix":"10.1101","volume":"8","author":[{"given":"Claire","family":"Mallard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael 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