Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)

M. Savarese, T. Qureshi, A. Torella, P. Laine, T. Giugliano, P.H. Jonson, M. Johari, L. Paulin, G. Piluso, P. Auvinen, V. Nigro, Bjarne Udd, P. Hackman

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review


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. © 2020 - IOS Press and the authors. All rights reserved.
TidskriftJournal of Neuromuscular Diseases
Sidor (från-till)477-481
Antal sidor5
StatusPublicerad - 2020
MoE-publikationstypA1 Tidskriftsartikel-refererad


  • 1184 Genetik, utvecklingsbiologi, fysiologi

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