SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference38 articles.
1. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes;Acedo;Breast Cancer Res.,2012
2. Alternative Splicing Detection Tool-a novel PERL algorithm for sensitive detection of splicing events, based on next-generation sequencing data analysis;Adamopoulos;Ann. Transl. Med.,2018
3. Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency;Adamson;Genome Biol..,2018
4. Alimohamed, M.Z., Johansson, L., Posafalvi, A., Boven, L.G., van Dijk, K.K., Walters, L., Vos, Y.J., Westers, H., Hoedemaekers, Y.M., Sinke, R.J., Sijmons, R.H., Sikkema-Raddatz, B., Jongbloed, J.D.H., van der Zwaag, P.A., 2021. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients. Int. J. Cardiol. S0167-5273(21)00378-8. doi: 10.1016/j.ijcard.2021.02.069. Epub ahead of print. PMID: 33662488.
5. Splicing mutations in human genetic disorders: examples, deletions and confirmation;Anna;J Appl Genet.,2018
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