Article ; Online: A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer.
The Journal of molecular diagnostics : JMD
2022 Volume 24, Issue 12, Page(s) 1264–1278
Abstract: Rapid, 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 ... ...
| Abstract | Rapid, 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. |
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| MeSH term(s) | Humans ; Nanopore Sequencing ; Chromosome Aberrations ; High-Throughput Nucleotide Sequencing/methods ; Gene Rearrangement ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics |
| Language | English |
| Publishing date | 2022-10-13 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2000060-1 |
| ISSN | 1943-7811 ; 1525-1578 |
| ISSN (online) | 1943-7811 |
| ISSN | 1525-1578 |
| DOI | 10.1016/j.jmoldx.2022.09.006 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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