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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...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
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| 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 |