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Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences
Information theory-based methods have been shown to be sensitive and specific for predicting and quantifying the effects of non-coding mutations in Mendelian diseases. We present the Shannon pipeline software for genome-scale mutation analysis and provide evidence that the software predicts variants...
Autores principales: | Shirley, Ben C., Mucaki, Eliseos J., Whitehead, Tyson, Costea, Paul I., Akan, Pelin, Rogan, Peter K. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357664/ https://www.ncbi.nlm.nih.gov/pubmed/23499923 http://dx.doi.org/10.1016/j.gpb.2013.01.008 |
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