#951Genetics & Molecular BiologyFront Page14 November 2025
RNA Sequencing Solves Genetic Puzzles Where DNA Analysis Fails
While standard DNA sequencing has revolutionised diagnostics, it often struggles to interpret non-coding variants in the genome. A study of 30 difficult cases reveals that RNA sequencing can uncover functional disruptions, such as splicing errors, providing crucial answers for rare disease patients who previously lacked a diagnosis.
By Lewis, O’Shea, Pizzo, Wen, Fulmer, Zhao, Verheijen, Zhang, Velinder, Nicholas, Boyden, Ward, Baldwin, Andrews, Ruiz, Marchetti, Viskochil, Carey, Bleyl, Butterfield, Taliercio, Botto, Mao, Bayrak-Toydemir, Undiagnosed Diseases Network
