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Updated: Dec 17, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)
Marco Savarese1,2, Talha Qureshi1,2, Annalaura Torella3,4
1Folkhälsan Research Center, Helsinki, Finland.
Abstract:
Although DNA-sequencing is the most effective procedure to achieve a molecular diagnosis in genetic diseases, complementary RNA analyses are often required.Reverse-Transcription polymerase chain reaction (RT-PCR) is still a valuable option when the clinical phenotype and/or available DNA-test results address the diagnosis toward a gene of interest or when the splicing effect of a single variant needs to be assessed.We use Single-Molecule Real-Time sequencing to detect and characterize splicing defects and single nucleotide variants in well-known disease genes (DMD, NF1, TTN). After proper optimization, the procedure could be used in the diagnostic setting, simplifying the workflow of cDNA analysis.
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