Article
In silico tools for splicing defect prediction: a survey from the viewpoint of end users.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2014
Jian Xueqiu, Boerwinkle Eric, Liu Xiaoming
Abstract excerpt
RNA splicing is the process during which introns are excised and exons are spliced. The precise recognition of splicing signals is critical to this process, and mutations affecting splicing comprise a considerable proportion of genetic disease etiology. Analysis of RNA samples from the patient is the most straightforward and reliable method to detect splicing defects. However, currently, the technical limitation...
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