Validation of predicted mRNA splicing mutations using high-throughput transcriptome data

Interpretation of variants present in complete genomes or exomes reveals numerous sequence changes, only a fraction of which are likely to be pathogenic. Mutations have been traditionally inferred from allele frequencies and inheritance patterns in such data. Variants predicted to alter mRNA splicin...

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Detalles Bibliográficos
Autores principales: Viner, Coby, Dorman, Stephanie N., Shirley, Ben C., Rogan, Peter K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2014
Materias:
Web Tool
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983938/
https://www.ncbi.nlm.nih.gov/pubmed/24741438
http://dx.doi.org/10.12688/f1000research.3-8.v2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983938/
https://www.ncbi.nlm.nih.gov/pubmed/24741438
http://dx.doi.org/10.12688/f1000research.3-8.v2

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