Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or benignity, equivalent to a likelihood ratio of ~2. However, limited availability...

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Detalles Bibliográficos
Autores principales: Cubuk, C., Garrett, A., Choi, S., King, L., Loveday, C., Torr, B., Burghel, G. J., Durkie, M., Callaway, A., Robinson, R., Drummond, J., Berry, I., Wallace, A., Eccles, D., Tischkowitz, M., Whiffin, N., Ware, J. S., Hanson, H., Turnbull, C., CanVIG-UK
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553612/
https://www.ncbi.nlm.nih.gov/pubmed/34230640
http://dx.doi.org/10.1038/s41436-021-01265-z

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