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Improving the prediction of disease-related variants using protein three-dimensional structure
BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are an important source of human genome variability. Non-synonymous SNPs occurring in coding regions result in single amino acid polymorphisms (SAPs) that may affect protein function and lead to pathology. Several methods attempt to estimate the imp...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194195/ https://www.ncbi.nlm.nih.gov/pubmed/21992054 http://dx.doi.org/10.1186/1471-2105-12-S4-S3 |