Article

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

2015-03-17

Abstract excerpt

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 and common diseases. We compile and summarize the spectrum of published variants analyzed by IT, to provide a broad per...

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Literature Corpus work: bcc34efe-374a-5262-956b-6b3c12956c01
DOI: 10.12688/f1000research.5654.2

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