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Fig. 2 | Genome Biology

Fig. 2

From: GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Fig. 2

Comparison of gene-specific classification thresholds with genome-wide fixed thresholds in three groups of genes: 737 genes for which CADD is predictive, 684 genes for which CADD is less predictive, and 766 genes with scarce training data. For each group, 10,000 sets of 100 benign and 100 pathogenic variants were randomly sampled and tested from the full set of 25,765 variants and accuracy was calculated for gene-specific and genome-wide CADD and MAF thresholds

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