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...

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Detalles Bibliográficos
Autores principales: Gosalia, Nehal, Economides, Aris N., Dewey, Frederick E., Balasubramanian, Suganthi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Computational Biology
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

Internet

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

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