Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS

BACKGROUND: In the sporadic form of amyotrophic lateral sclerosis (ALS), the pathogenicity of rare variants in the causative genes characterizing the familial form remains largely unknown. To predict the pathogenicity of such variants, in silico analysis is commonly used. In some ALS causative genes...

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Detalles Bibliográficos
Autores principales: Hatano, Yuya, Ishihara, Tomohiko, Onodera, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197232/
https://www.ncbi.nlm.nih.gov/pubmed/37208601
http://dx.doi.org/10.1186/s12859-023-05338-5

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