Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
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DOI: 10.1038/s41436-021-01265-z
Abstract: 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.… read more here.
Keywords: functional assays; balanced accuracy; silico; likelihood ... See more keywords