Researchers reported an Oxford Nanopore whole-genome sequencing assay using adaptive sampling that delivered fusion gene detection, small-variant calling, copy-number and methylation-class profiling within hours. The approach matched standard clinical assay outputs across 36 pediatric cancer and control samples. The study targets a core bottleneck in pediatric oncology diagnostics: turnaround time for comprehensive genomic characterization to support treatment decisions. If validated in larger prospective cohorts, the method could compress diagnostic timelines while retaining broad variant detection coverage beyond fusion-only or targeted panels.
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