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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Vydané v:	Genetics in medicine Ročník 16; číslo 7; s. 497 - 503
Hlavní autori:	Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York Nature Publishing Group US 01.07.2014 Elsevier Limited
Predmet:	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
On-line prístup:	Získať plný text
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