Success rate of the coincidence rule, for the all the different combinations of reference predictors (SIFT, PolyPhen-2, PON-P2, CADD and MutationTaster2). The performance measures are the six standard measures (MCC, accuracy, sensitivity, specificity, PPV and NPV) described in the Materials and Methods section. We give: the raw TP, TN, FP and FN values; the coverage relative to the original dataset of 59,442 variants (VS228) and the number of cases where the predictors coincide. (PDF 28 kb
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Purpose: conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) ...
A text file containing the subset of genes for which we have reported pathogenic variants (3,046 gen...
Prediction performance for the PRDIS specific predictors in this work for VS228; each corresponds to...
Prediction performance for the PRDIS specific predictors in this work for VS2168 dataset; each corre...
In the coincidence rule (see main text) computational information is accepted as supporting evidence...
Comparison between PPV values for PRDIS specific and reference predictors. The figure shows that com...
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its ...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
<p>Each predictor yields its own type of results, usually quantitative and categorical. We have chos...
Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide...
Table S1. The sensitivity and specificity of GRIPT with CADD and other tests under the AR and AD mod...
Detailed overview of all benchmark results. Each combination of tool and dataset is listed. We provi...
PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and...
Purpose: Where multiple in silico tools are concordant, the American College of Medical Genetics and...
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Purpose: conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) ...
A text file containing the subset of genes for which we have reported pathogenic variants (3,046 gen...
Prediction performance for the PRDIS specific predictors in this work for VS228; each corresponds to...
Prediction performance for the PRDIS specific predictors in this work for VS2168 dataset; each corre...
In the coincidence rule (see main text) computational information is accepted as supporting evidence...
Comparison between PPV values for PRDIS specific and reference predictors. The figure shows that com...
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its ...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
<p>Each predictor yields its own type of results, usually quantitative and categorical. We have chos...
Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide...
Table S1. The sensitivity and specificity of GRIPT with CADD and other tests under the AR and AD mod...
Detailed overview of all benchmark results. Each combination of tool and dataset is listed. We provi...
PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and...
Purpose: Where multiple in silico tools are concordant, the American College of Medical Genetics and...
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Purpose: conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) ...
A text file containing the subset of genes for which we have reported pathogenic variants (3,046 gen...