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A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements |
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| Authors: | Alexander Churbanov Igor Vo?echovský Chindo Hicks |
| Institution: | (1) Biology Dept., MSC 3AF, New Mexico State University, PO Box 30001, Las Cruces, NM 88003, USA;(2) University of Southampton, Southampton University Hospital, MP808, Tremona Road, Southampton, SO16 6YD, UK;(3) Loyola University Medical Center, 2160 S. First Ave., Maywood, IL 60153, USA |
| Abstract: | BackgroundPolymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of such events in multi-genic disorders is yet to be well understood. We have developed a new tool (SpliceScan II) for predicting the effects of genetic variants on splicing and cis-regulatory elements. The novel Bayesian non-canonical 5'GC splice site (SS) sensor used in our tool allows inference on non-canonical exons. |
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