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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000Research
2014
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| Materias: | |
| 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 |