Additional file 4: Table S4. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

The tools used to evaluate our benchmark variant set and the web addresses used through which they were accessed. (XLSX 51 kb

Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Detailed overview of all benchmark results. Each combination of tool and dataset is listed. We provide the raw counts of true positives (TP), true negatives (TN), false positives (FP), and false negatives (FN), as well as of pathogenic and benign variants that were “missed,” i.e. not correctly identified as such. From these numbers, we calculated the sensitivity and specificity. (XLSX 58 kb

Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Estimate of the practical impact in clinical diagnostics of using methods of different sensitivity and specificity on a dataset with 100 benign and 10 pathogenic variants. (XLSX 50 kb