A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer

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dc.contributor.authorFisher, Chloe L.
dc.contributor.authorDillon, Richard
dc.contributor.authorAnguita Mandly, Eduardo Luis
dc.contributor.authorMorris Rosendahl, Deborah J.
dc.contributor.authorAwan, Ali R.
dc.date.accessioned2024-01-25T13:39:08Z
dc.date.available2024-01-25T13:39:08Z
dc.date.issued2022-12
dc.description.abstractRapid, cost-effective genomic stratification of structural rearrangements in cancer is often of vital importance when determining treatment; however, existing diagnostic cytogenetic and molecular testing fails to deliver the required speed when deployed at scale. Next-generation sequencing-based methods are widely used, but these can lack sensitivity and require batching of samples to be cost-effective, with long turnaround times. Here we present a novel method for rearrangement detection from genomic DNA based on third-generation long-read sequencing that overcomes these time and cost issues. The utility of this approach for the genomic stratification of patients with acute myeloid leukemia is shown based on detection of four of the most prevalent structural rearrangements. The method not only determines the precise genomic breakpoint for each expected rearrangement but also discovers and validates novel translocations in one-third of the tested samples, 80% of which involve known oncogenes. This method may prove to be a powerful tool for the diagnosis, genomic stratification, and characterization of cancers.
dc.description.departmentDepto. de Medicina
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.sponsorshipFundación Hay Esperanza
dc.description.statuspub
dc.identifier.citationFisher CL, Dillon R, Anguita E, Morris-Rosendahl DJ, Awan AR. A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer. J Mol Diagn. 2022 Dec;24(12):1264-1278.
dc.identifier.doi10.1016/j.jmoldx.2022.09.006
dc.identifier.issn1525-1578
dc.identifier.officialurlhttps://www.clinicalkey.es/#!/browse/toc/1-s2.0-S1525157821X00232/null/journalIssue
dc.identifier.urihttps://hdl.handle.net/20.500.14352/95475
dc.issue.number12
dc.journal.titleThe Journal of molecular diagnostics
dc.language.isoeng
dc.page.final1278
dc.page.initial1264
dc.publisherElsevier
dc.rights.accessRightsopen access
dc.subject.cdu616.15
dc.subject.keywordSecuenciación
dc.subject.keywordLeucemia aguda mieloide
dc.subject.ucmHematología
dc.subject.unesco3207.08 Hematología
dc.subject.unesco2409 Genética
dc.subject.unesco32 Ciencias Médicas
dc.titleA Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer
dc.typejournal article
dc.type.hasVersionVoR
dc.volume.number24
dspace.entity.typePublication
relation.isAuthorOfPublicationaa41c8cb-98ce-401a-99fb-32d3a2f96f00
relation.isAuthorOfPublication.latestForDiscoveryaa41c8cb-98ce-401a-99fb-32d3a2f96f00
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