17. One test to rule them all? The utility of nanopore sequencing for variant detection in hematological malignancies

      Genetic assessment of hematological malignancy samples typically involves karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA) and short read sequencing to detect clinically significant variants. In addition, specialized techniques, such as Bionano optical mapping or mate pair sequencing can define breakpoints of structural abnormalities and detect gene fusions. A single clinical test allowing for the detection of both large and small events in the same platform including exact genetic breakpoints would allow for more efficient and inexpensive patient care.
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