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Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions
The increasing diagnostic use of gene sequencing has led to an expanding dataset of novel variants that lie within consensus splice junctions. The challenge for diagnostic laboratories is the evaluation of these variants in order to determine if they affect splicing or are merely benign. A common ev...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894998/ https://www.ncbi.nlm.nih.gov/pubmed/27313609 http://dx.doi.org/10.1155/2016/5614058 |