Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000Research
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329672/ https://www.ncbi.nlm.nih.gov/pubmed/25717368 http://dx.doi.org/10.12688/f1000research.5654.1 |