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: Natasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Ltd 2014-11-01
Colecção:F1000Research
Assuntos:
Bioinformatics
Genomics
Structure: RNA
Structure: Transcription & Translation
Acesso em linha:http://f1000research.com/articles/3-282/v1
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