In silico tools for splicing defect prediction: a survey from the viewpoint of end users

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 th...

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Bibliographic Details
Published in:	Genetics in medicine Vol. 16; no. 7; pp. 497 - 503
Main Authors:	Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming
Format:	Journal Article
Language:	English
Published:	New York Nature Publishing Group US 01.07.2014 Elsevier Limited
Subjects:	631/114 631/208/1516 631/208/1792 Biomedical and Life Sciences Biomedicine Computational Biology - methods Computer Simulation Genetic Variation - genetics Human Genetics Humans Laboratory Medicine Mutation review RNA Precursors - genetics RNA Splicing - genetics Software splicing mutation splicing consensus region end user medical genetics in silico prediction tool bioinformatics
ISSN:	1098-3600, 1530-0366, 1530-0366
Online Access:	Get full text
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