Ontology highlight
ABSTRACT:
SUBMITTER: Jansen AM
PROVIDER: S-EPMC6057924 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Jansen Anne Ml AM van der Klift Heleen M HM Roos Marieke Ae MA van Eendenburg Jaap Dh JD Tops Carli Mj CM Wijnen Juul T JT Hes Frederik J FJ Morreau Hans H van Wezel Tom T
European journal of human genetics : EJHG 20180430 8
High-throughput sequencing efforts in molecular tumour diagnostics detect increasing numbers of novel variants, including variants predicted to affect splicing. In silico prediction tools can reliably predict the effect of variant disrupting canonical splice sites; however, experimental validation is required to confirm aberrant splicing. Here, we present RNA analysis performed for 13 canonical splice site variants predicted or known to result in splicing in the cancer predisposition genes MLH1, ...[more]