Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v2; ref status: indexed, http://f1000r.es/54y]
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding mutations that alter mRNA splicing in rare an...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2015-03-01
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| Series: | F1000Research |
| Subjects: | |
| Online Access: | http://f1000research.com/articles/3-282/v2 |