Validation of predicted mRNA splicing mutations using high-throughput transcriptome data [v1; ref status: indexed, http://f1000r.es/2no]
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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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
F1000 Research Ltd
2014-01-01
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| coleção: | F1000Research |
| Assuntos: | |
| Acesso em linha: | http://f1000research.com/articles/3-8/v1 |
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