Rhapsody: predicting the pathogenicity of human missense variants

MOTIVATION: The biological effects of human missense variants have been studied experimentally for decades but predicting their effects in clinical molecular diagnostics remains challenging. Available computational tools are usually based on the analysis of sequence conservation and structural prope...

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Detalles Bibliográficos
Autores principales: Ponzoni, Luca, Peñaherrera, Daniel A, Oltvai, Zoltán N, Bahar, Ivet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214033/
https://www.ncbi.nlm.nih.gov/pubmed/32101277
http://dx.doi.org/10.1093/bioinformatics/btaa127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214033/
https://www.ncbi.nlm.nih.gov/pubmed/32101277
http://dx.doi.org/10.1093/bioinformatics/btaa127

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