Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels

BACKGROUND: The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classifying missense variants, in-frame insertions/de...

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Detalles Bibliográficos
Autores principales: Cannon, S., Williams, M., Gunning, A. C., Wright, C. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972633/
https://www.ncbi.nlm.nih.gov/pubmed/36855133
http://dx.doi.org/10.1186/s12920-023-01454-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972633/
https://www.ncbi.nlm.nih.gov/pubmed/36855133
http://dx.doi.org/10.1186/s12920-023-01454-6

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