AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms

Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the clinically significant ones remains difficult, such t...

Descripción completa

Detalles Bibliográficos
Autores principales: Ljungdahl, Alicia, Kohani, Sayeh, Page, Nicholas F., Wells, Eloise S., Wigdor, Emilie M., Dong, Shan, Sanders, Stephan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634779/
https://www.ncbi.nlm.nih.gov/pubmed/37961354
http://dx.doi.org/10.1101/2023.10.24.562294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634779/
https://www.ncbi.nlm.nih.gov/pubmed/37961354
http://dx.doi.org/10.1101/2023.10.24.562294

Ejemplares similares