Predicting the pathogenicity of missense variants using features derived from AlphaFold2

MOTIVATION: Missense variants are a frequent class of variation within the coding genome, and some of them cause Mendelian diseases. Despite advances in computational prediction, classifying missense variants into pathogenic or benign remains a major challenge in the context of personalized medicine...

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Detalles Bibliográficos
Autores principales: Schmidt, Axel, Röner, Sebastian, Mai, Karola, Klinkhammer, Hannah, Kircher, Martin, Ludwig, Kerstin U
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10203375/
https://www.ncbi.nlm.nih.gov/pubmed/37084271
http://dx.doi.org/10.1093/bioinformatics/btad280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10203375/
https://www.ncbi.nlm.nih.gov/pubmed/37084271
http://dx.doi.org/10.1093/bioinformatics/btad280

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