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Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways
It is proposed that MEK inhibitors may represent a relevant therapeutic option for BRAF fusions and non‐V600 BRAF mutant tumours, providing a novel strategy for this challenging disease.
Toward the clinical application of long-read sequencing in repeat-expansion disorders
This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.