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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
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| Materias: | |
| 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 |