Article
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
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
Abstract excerpt
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 of "clinical truth sets" and prior use in tool training limits their utility for evaluation of tool performance....
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