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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Veröffentlicht in:	Nucleic acids research 2014-12, Vol.42 (22), p.13534-13544
Hauptverfasser:	Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Artificial Intelligence Computer Simulation Data Resources and Analyses Genes, Neoplasm Genetic Variation Genome, Human Genomics - methods Humans Position-Specific Scoring Matrices RNA Splice Sites
Online-Zugang:	Volltext
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