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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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Bibliografiske detaljer
Main Authors: Natasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan
Format: Artigo
Sprog:Inglês
Udgivet: F1000 Research Ltd 2014-11-01
Serier:F1000Research
Fag:
Online adgang:http://f1000research.com/articles/3-282/v1
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