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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v1; ref status: indexed, http://f1000r.es/4nq]
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...
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| Main Authors: | , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
F1000 Research Ltd
2014-11-01
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| 叢編: | F1000Research |
| 主題: | |
| 在線閱讀: | http://f1000research.com/articles/3-282/v1 |
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