Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).
J Neuromuscul Dis
; 7(4): 477-481, 2020.
Article
en En
| MEDLINE
| ID: mdl-32597815
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Empalme del ARN
/
Pruebas Genéticas
/
Análisis de Secuencia de ADN
/
ADN Complementario
/
Polimorfismo de Nucleótido Simple
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
J Neuromuscul Dis
Año:
2020
Tipo del documento:
Article
País de afiliación:
Finlandia