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Computational identification of deleterious synonymous variants in human genomes using a feature-based approach
BACKGROUND: Although synonymous single nucleotide variants (sSNVs) do not alter the protein sequences, they have been shown to play an important role in human disease. Distinguishing pathogenic sSNVs from neutral ones is challenging because pathogenic sSNVs tend to have low prevalence. Although many...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357349/ https://www.ncbi.nlm.nih.gov/pubmed/30704475 http://dx.doi.org/10.1186/s12920-018-0455-6 |