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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2014-01-01
|
| Series: | F1000Research |
| Subjects: | |
| Online Access: | http://f1000research.com/articles/3-8/v1 |