Assigning credit where it’s due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect

BACKGROUND: A variant can be pathogenic or benign with relation to a human disease. Current classification categories from benign to pathogenic reflect a probabilistic summary of current understanding. A primary metric of clinical utility for multiplexed assays of variant effect (MAVE) is the number...

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Detalles Bibliográficos
Autores principales: Ranola, John Michael O, Horton, Carrie, Pesaran, Tina, Fayer, Shawn, Starita, Lea M., Shirts, Brian H
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/PMC10614968/
https://www.ncbi.nlm.nih.gov/pubmed/37905042
http://dx.doi.org/10.1101/2023.10.20.562794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614968/
https://www.ncbi.nlm.nih.gov/pubmed/37905042
http://dx.doi.org/10.1101/2023.10.20.562794

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