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...

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Bibliographische Detailangaben
Veröffentlicht in:Genomics Proteomics Bioinformatics
Hauptverfasser: Shirley, Ben C., Mucaki, Eliseos J., Whitehead, Tyson, Costea, Paul I., Akan, Pelin, Rogan, Peter K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2013
Schlagworte:
Original Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357664/
https://ncbi.nlm.nih.gov/pubmed/23499923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gpb.2013.01.008
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