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...

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Detalles Bibliográficos
Autores principales: Shi, Fang, Yao, Yao, Bin, Yannan, Zheng, Chun-Hou, Xia, Junfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
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

Internet

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

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