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MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants
Nonsynonymous single nucleotide variants (nsSNVs) constitute about 50% of known disease-causing mutations and understanding their functional impact is an area of active research. Existing algorithms predict pathogenicity of nsSNVs; however, they are unable to differentiate heterozygous, dominant dis...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737764/ https://www.ncbi.nlm.nih.gov/pubmed/28977528 http://dx.doi.org/10.1093/nar/gkx730 |