Article
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
American journal of human genetics - 5 Jun 2025
Pepe Daniele, Janssens Xander, Timcheva Kalina, Marrón-Liñares Grecia M, Verbelen Benno, Konstantakos Vasileios, De Groote Dylan, De Bie Jolien, Verhasselt Amber, Dewaele Barbara, Godderis Arne, Cools Charlotte, Franco-Tolsau Mireia, Royaert Jonathan, Verbeeck Jelle, Kampen Kim R, Subramanian Karthik, Cabrerizo Granados David, Menschaert Gerben, De Keersmaecker Kim
Abstract excerpt
The role of synonymous mutations in cancer pathogenesis is currently underexplored. We developed a method to detect significant clusters of synonymous and missense mutations in public cancer genomics data. In melanoma, we show that 22% (11/50) of these mutation clusters are misannotated as coding mutations because the reference transcripts used for their annotation are not expressed. Instead, these mutations are...
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