A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements

BACKGROUND: Polymorphic 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 b...

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Detalles Bibliográficos
Autores principales: Churbanov, Alexander, Vořechovský, Igor, Hicks, Chindo
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098058/
https://www.ncbi.nlm.nih.gov/pubmed/20067640
http://dx.doi.org/10.1186/1471-2105-11-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098058/
https://www.ncbi.nlm.nih.gov/pubmed/20067640
http://dx.doi.org/10.1186/1471-2105-11-22

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