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Splicing defect detection software tools | Whole-genome sequencing data analysis

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 DNA sequence without measuring splicing signal changes caused by a variant.

Source text:
(Jian et al.,2014) In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res.

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