Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

PURPOSE: Whereas most human genes encode multiple mRNA isoforms with distinct function, clinical workflows for assessing this heterogeneity are not readily available. This is a substantial shortcoming, considering that up to 25% of disease-causing gene variants are suspected of disrupting mRNA splic...

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Detalles Bibliográficos
Autores principales: Schwenk, Vincent, Leal Silva, Rafaela Magalhaes, Scharf, Florentine, Knaust, Katharina, Wendlandt, Martin, Häusser, Tanja, Pickl, Julia M A, Steinke-Lange, Verena, Laner, Andreas, Morak, Monika, Holinski-Feder, Elke, Wolf, Dieter A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423559/
https://www.ncbi.nlm.nih.gov/pubmed/36593122
http://dx.doi.org/10.1136/jmg-2022-108931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423559/
https://www.ncbi.nlm.nih.gov/pubmed/36593122
http://dx.doi.org/10.1136/jmg-2022-108931

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