rewirebio.iobenchmarks
Contested result

Eigen and MutationAssessor: Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) reverses the order

  • Medium severity
  • Not yet reviewed
  • Ordering reversal
  • Different tasks across studies

Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) ranks MutationAssessor above Eigen in 6 of 7 comparisons; other studies rank Eigen above MutationAssessor in 21 of 21.

An automatic lead, not a finding of error. The results below are shown as published, everywhere on the site, until a reviewer decides otherwise.

Which studies agree

3 papers rank Eigen above MutationAssessor in all 21 comparisons that are not ties (1 is a tie). Livesey and Marsh 2025 ranks MutationAssessor above Eigen in 6 of its 7 comparisons and Eigen higher in 1.

Papers grouped by which system they rank higher: Eigen or MutationAssessorRank Eigen higher: Comprehensive assessment…, Clinical likelihood ratios and balanced…, An openly licensed benchmark…. Rank MutationAssessor higher: Livesey and Marsh 2025 (disagrees). Mixed: none.Rank Eigen higherMixedRank MutationAssessor higherComprehensive assessment…Comprehensive assessment of computational algorithms in predicting cancer driver mutationsClinical likelihoodratios and balanced…Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genesAn openly licensedbenchmark…An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer driversLivesey and Marsh 2025Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)
  • Rank Eigen higher (3): Comprehensive assessment…, Clinical likelihood ratios and balanced…, An openly licensed benchmark…
  • Rank MutationAssessor higher (1): Livesey and Marsh 2025 (disagrees)
  • Mixed (0): none

Each paper sits where at least two thirds of its comparisons point; Mixed means neither model reaches two thirds. The larger, outlined dot is the paper that disagrees.

Comparisons in which each paper scores Eigen or MutationAssessor higherLivesey and Marsh 2025 (disagrees): Eigen higher in 1, MutationAssessor higher in 6, 0 ties. Comprehensive assessment…: Eigen higher in 10, MutationAssessor higher in 0, 0 ties. Clinical likelihood ratios and balanced…: Eigen higher in 5, MutationAssessor higher in 0, 1 tie. An openly licensed benchmark…: Eigen higher in 6, MutationAssessor higher in 0, 0 ties.Disagrees: Livesey and Marsh 2025Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)1 Eigen higher16 MutationAssessor higher6Comprehensive assessment…Comprehensive assessment of computational algorithms in predicting cancer driver mutations10 Eigen higher10Clinical likelihood ratios and balanced…Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes5 Eigen higher51 tie1An openly licensed benchmark…An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers6 Eigen higher6
Eigen higherTieMutationAssessor higherNumbers are counts of comparisons; the outlined bar is the paper that disagrees.
Comparisons in Livesey and Marsh 2025 (7)
ProtocolDatasetMetricEigenMutationAssessorHigher
Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missenseLivesey and Marsh 2025 clinical set: ClinVar pathogenic versus gnomAD v4.1 missense (819 proteins)Pairwise win rate (average pairwise win rate against all other VEPs, per-protein AUROC on shared variants, ClinVar P/LP versus gnomAD v4.1 missense, proteins with at least 10 of each), percent54.651.4Eigen
Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS setsLivesey and Marsh 2025 human DMS benchmark set (36 proteins)Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, 36 human DMS sets), percent52.458.8MutationAssessor
Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS setsLivesey and Marsh 2025 human DMS benchmark set (36 proteins)Pairwise win rate (average pairwise win rate against the five top-ranked VEPs (column top_5_winrate; the five are not listed in the table), |Spearman| with DMS on shared variants, 36 human DMS sets), percent4.8310.3MutationAssessor
Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays onlyLivesey and Marsh 2025 human DMS benchmark set (36 proteins)Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, direct DMS assays only), percent53.759.3MutationAssessor
Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays onlyLivesey and Marsh 2025 human DMS benchmark set (36 proteins)Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, indirect DMS assays only), percent51.358.3MutationAssessor
Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions onlyLivesey and Marsh 2025 human DMS benchmark set (36 proteins)Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, SNV-accessible substitutions only), percent52.458.8MutationAssessor
Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filledLivesey and Marsh 2025 human DMS benchmark set (36 proteins)Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS, SNV-accessible substitutions, missing predictions filled with the VEP's most benign score), percent53.957.3MutationAssessor
Comparisons in Comprehensive assessment… (10)
ProtocolDatasetMetricEigenMutationAssessorHigher
OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Accuracy (OncoKB benchmark (positive set not stated), median-score threshold), fraction0.660.59Eigen
OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Negative predictive value (OncoKB benchmark (positive set not stated), median-score threshold), fraction0.660.59Eigen
OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Precision (OncoKB benchmark (positive set not stated), median-score threshold), fraction0.660.59Eigen
OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Recall (OncoKB benchmark (positive set not stated), median-score threshold), fraction0.660.61Eigen
OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Specificity (OncoKB benchmark (positive set not stated), median-score threshold), fraction0.660.57Eigen
Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Accuracy (cell viability drivers versus neutral, median-score threshold), fraction0.630.6Eigen
Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Negative predictive value (cell viability drivers versus neutral, median-score threshold), fraction0.630.6Eigen
Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Precision (cell viability drivers versus neutral, median-score threshold), fraction0.630.6Eigen
Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Recall (cell viability drivers versus neutral, median-score threshold), fraction0.630.6Eigen
Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Specificity (cell viability drivers versus neutral, median-score threshold), fraction0.630.6Eigen
Comparisons in Clinical likelihood ratios and balanced… (6)
ProtocolDatasetMetricEigenMutationAssessorHigher
BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)BRCA1 functional truth set: 1641 missense variants classed deleterious or tolerated by HAP1 cell survival after saturation genome editingBenignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA1 functional truth set), unitless13.66.64Eigen
BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)BRCA1 functional truth set: 1641 missense variants classed deleterious or tolerated by HAP1 cell survival after saturation genome editingFalse negatives (Functionally deleterious BRCA1 variants called tolerated), count1430Eigen
BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)BRCA1 functional truth set: 1641 missense variants classed deleterious or tolerated by HAP1 cell survival after saturation genome editingLikelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA1 functional truth set), unitless2.732.1Eigen
BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)BRCA2 functional truth set: 188 missense variants classed deleterious or tolerated by Homology-directed repairBenignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA2 functional truth set), unitless18.79.88Eigen
BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)BRCA2 functional truth set: 188 missense variants classed deleterious or tolerated by Homology-directed repairFalse negatives (Functionally deleterious BRCA2 variants called tolerated), count11Tie
BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)BRCA2 functional truth set: 188 missense variants classed deleterious or tolerated by Homology-directed repairLikelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA2 functional truth set), unitless1.431.16Eigen
Comparisons in An openly licensed benchmark… (6)
ProtocolDatasetMetricEigenMutationAssessorHigher
CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv)Missense variants in 768 Cancer Gene Census genes with open oncogenicity labelsAUROC (CGC missense, all genes), unitless0.8140.794Eigen
CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv)Missense variants in 768 Cancer Gene Census genes with open oncogenicity labelsAverage precision (CGC missense, all genes), unitless0.5890.554Eigen
CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv)Missense variants in 768 Cancer Gene Census genes with open oncogenicity labelsAUROC (CGC missense, oncogenes (gain of function)), unitless0.8090.769Eigen
CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv)Missense variants in 768 Cancer Gene Census genes with open oncogenicity labelsAverage precision (CGC missense, oncogenes (gain of function)), unitless0.6330.604Eigen
CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv)Missense variants in 768 Cancer Gene Census genes with open oncogenicity labelsAUROC (CGC missense, tumour suppressors (loss of function)), unitless0.8740.824Eigen
CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv)Missense variants in 768 Cancer Gene Census genes with open oncogenicity labelsAverage precision (CGC missense, tumour suppressors (loss of function)), unitless0.6060.535Eigen

What disagrees

Other studies
rank Eigen above MutationAssessor in 21 of 21 comparisons
This study
ranks MutationAssessor above Eigen in 6 of 7 comparisons
Compared
Eigen, MutationAssessor
Study that disagrees
Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML), Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8)
Other studies
9 studiesClinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes, Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx), Comprehensive assessment of computational algorithms in predicting cancer driver mutations, Chen et al. 2020, Additional file 10: Performance metrics of 17 algorithms, default categories, benchmark 2 (OncoKB), Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability), Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability), Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB), An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers, OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)
Rule
Ordering reversal; different tasks across studies
Model identity
Matched across studies partly through links not yet reviewed

The compared numbers

Each value links to its result record and source. Compare values within one protocol; the rule compares rankings, not raw values across protocols.

In the study that disagrees (14)
StudyToolProtocol or benchmarkMetricValue
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missensePairwise win rate (average pairwise win rate against all other VEPs, per-protein AUROC on shared variants, ClinVar P/LP versus gnomAD v4.1 missense, proteins with at least 10 of each)54.6
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missensePairwise win rate (average pairwise win rate against all other VEPs, per-protein AUROC on shared variants, ClinVar P/LP versus gnomAD v4.1 missense, proteins with at least 10 of each)51.4
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS setsPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, 36 human DMS sets)52.4
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS setsPairwise win rate (average pairwise win rate against the five top-ranked VEPs (column top_5_winrate; the five are not listed in the table), |Spearman| with DMS on shared variants, 36 human DMS sets)4.83
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS setsPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, 36 human DMS sets)58.8
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS setsPairwise win rate (average pairwise win rate against the five top-ranked VEPs (column top_5_winrate; the five are not listed in the table), |Spearman| with DMS on shared variants, 36 human DMS sets)10.3
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays onlyPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, direct DMS assays only)53.7
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays onlyPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, direct DMS assays only)59.3
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays onlyPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, indirect DMS assays only)51.3
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays onlyPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, indirect DMS assays only)58.3
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions onlyPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, SNV-accessible substitutions only)52.4
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)Eigen (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filledPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS, SNV-accessible substitutions, missing predictions filled with the VEP's most benign score)53.9
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filledPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS, SNV-accessible substitutions, missing predictions filled with the VEP's most benign score)57.3
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)MutationAssessor (Livesey and Marsh 2025)Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions onlyPairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, SNV-accessible substitutions only)58.8
In the other studies (48 results)
In the other studies
StudyToolProtocol or benchmarkMetricValue
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)Eigen-PC_a (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)False negatives (Functionally deleterious BRCA1 variants called tolerated)14
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)Eigen-PC_b (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA1 functional truth set)13.6
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)Eigen-PC_b (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)False negatives (Functionally deleterious BRCA1 variants called tolerated)14
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)Eigen-PC_b (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA1 functional truth set)2.73
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)Eigen-PC_b (Cubuk et al. 2021)BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA2 functional truth set)18.7
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)Eigen-PC_b (Cubuk et al. 2021)BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA2 functional truth set)1.43
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)MutationAssessor (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA1 functional truth set)6.64
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)MutationAssessor (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)False negatives (Functionally deleterious BRCA1 variants called tolerated)30
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)MutationAssessor (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA1 functional truth set)2.1
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)MutationAssessor (Cubuk et al. 2021)BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA2 functional truth set)9.88
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx)MutationAssessor (Cubuk et al. 2021)BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA2 functional truth set)1.16
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Accuracy (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Negative predictive value (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Precision (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Recall (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Specificity (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen-PC (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Accuracy (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen-PC (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Negative predictive value (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen-PC (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Precision (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen-PC (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Recall (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)Eigen-PC (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Specificity (OncoKB benchmark (positive set not stated), median-score threshold)0.66
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)Eigen-PC (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Accuracy (cell viability drivers versus neutral, median-score threshold)0.63
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)Eigen-PC (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Negative predictive value (cell viability drivers versus neutral, median-score threshold)0.63
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)Eigen-PC (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Precision (cell viability drivers versus neutral, median-score threshold)0.63
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)Eigen-PC (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Recall (cell viability drivers versus neutral, median-score threshold)0.63
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)Eigen-PC (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Specificity (cell viability drivers versus neutral, median-score threshold)0.63
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Accuracy (OncoKB benchmark (positive set not stated), median-score threshold)0.59
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Negative predictive value (OncoKB benchmark (positive set not stated), median-score threshold)0.59
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Precision (OncoKB benchmark (positive set not stated), median-score threshold)0.59
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Recall (OncoKB benchmark (positive set not stated), median-score threshold)0.61
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 9: Performance metrics of 33 algorithms, median-score threshold, benchmark 2 (OncoKB)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), median-score threshold (Chen et al. 2020 Additional file 9)Specificity (OncoKB benchmark (positive set not stated), median-score threshold)0.57
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Accuracy (cell viability drivers versus neutral, median-score threshold)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Negative predictive value (cell viability drivers versus neutral, median-score threshold)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Precision (cell viability drivers versus neutral, median-score threshold)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Recall (cell viability drivers versus neutral, median-score threshold)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 21: Performance metrics of 33 algorithms, median-score threshold, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, median-score threshold (Chen et al. 2020 Additional file 21)Specificity (cell viability drivers versus neutral, median-score threshold)0.6
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)Eigen-raw_coding rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv)Average precision (CGC missense, all genes)0.589
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)Eigen-raw_coding rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv)AUROC (CGC missense, all genes)0.814
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)Eigen-raw_coding rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv)Average precision (CGC missense, oncogenes (gain of function))0.633
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)Eigen-raw_coding rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv)AUROC (CGC missense, oncogenes (gain of function))0.809
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)Eigen-raw_coding rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv)Average precision (CGC missense, tumour suppressors (loss of function))0.606
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)Eigen-raw_coding rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv)AUROC (CGC missense, tumour suppressors (loss of function))0.874
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)MutationAssessor rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv)Average precision (CGC missense, all genes)0.554
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)MutationAssessor rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv)AUROC (CGC missense, all genes)0.794
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)MutationAssessor rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv)Average precision (CGC missense, oncogenes (gain of function))0.604
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)MutationAssessor rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv)AUROC (CGC missense, oncogenes (gain of function))0.769
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)MutationAssessor rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv)Average precision (CGC missense, tumour suppressors (loss of function))0.535
An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role)MutationAssessor rank score, dbNSFP 5.3.1a (Lee 2026)CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv)AUROC (CGC missense, tumour suppressors (loss of function))0.824

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Finding discrepancy-34c6589a558a894f · All contested results · How findings are made and followed up