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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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Détails bibliographiques
Publié dans:Bioinformatics
Auteurs principaux: Ponzoni, Luca, Peñaherrera, Daniel A, Oltvai, Zoltán N, Bahar, Ivet
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7214033/
https://ncbi.nlm.nih.gov/pubmed/32101277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa127
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