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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
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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| Pubblicato in: | F1000Res |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
F1000Research
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4329672/ https://ncbi.nlm.nih.gov/pubmed/25717368 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.5654.1 |
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