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In silico prediction of splice-altering single nucleotide variants in the human genome

In silico tools have been developed to predict variants that may have an impact on pre-mRNA splicing. The major limitation of the application of these tools to basic research and clinical practice is the difficulty in interpreting the output. Most tools only predict potential splice sites given a DN...

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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4267638/
https://ncbi.nlm.nih.gov/pubmed/25416802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gku1206
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