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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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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Caminsky, Natasha, Mucaki, Eliseos J., Rogan, Peter K.
Formato: Artigo
Idioma:Inglês
Publicado em: F1000Research 2014
Assuntos:
Acesso em linha: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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