rewirebio.iobenchmarks
Contested result

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

  • Low severity
  • Not yet reviewed
  • Ordering reversal
  • unknown

Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) ranks MutationAssessor above FATHMM-MKL in 7 of 7 comparisons; 2 of 2 other studies rank FATHMM-MKL above MutationAssessor.

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

2 papers rank FATHMM-MKL above MutationAssessor in 19 of their 25 comparisons and MutationAssessor higher in 6. Livesey and Marsh 2025 ranks MutationAssessor above FATHMM-MKL in all 7 of its comparisons.

Papers grouped by which system they rank higher: FATHMM-MKL or MutationAssessorRank FATHMM-MKL higher: Comprehensive assessment…, Clinical likelihood ratios and balanced…. Rank MutationAssessor higher: Livesey and Marsh 2025 (disagrees). Mixed: none.Rank FATHMM-MKL 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 genesLivesey and Marsh 2025Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)
  • Rank FATHMM-MKL higher (2): Comprehensive assessment…, Clinical likelihood ratios and balanced…
  • 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 FATHMM-MKL or MutationAssessor higherLivesey and Marsh 2025 (disagrees): FATHMM-MKL higher in 0, MutationAssessor higher in 7, 0 ties. Comprehensive assessment…: FATHMM-MKL higher in 15, MutationAssessor higher in 5, 0 ties. Clinical likelihood ratios and balanced…: FATHMM-MKL higher in 4, MutationAssessor higher in 1, 0 ties.Disagrees: Livesey and Marsh 2025Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)7 MutationAssessor higher7Comprehensive assessment…Comprehensive assessment of computational algorithms in predicting cancer driver mutations15 FATHMM-MKL higher155 MutationAssessor higher5Clinical likelihood ratios and balanced…Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes4 FATHMM-MKL higher41 MutationAssessor higher1
FATHMM-MKL higherTieMutationAssessor higherNumbers are counts of comparisons; the outlined bar is the paper that disagrees.
Comparisons in Livesey and Marsh 2025 (7)
ProtocolDatasetMetricFATHMM-MKLMutationAssessorHigher
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), percent20.251.4MutationAssessor
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), percent16.158.8MutationAssessor
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), percent0.66710.3MutationAssessor
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), percent15.859.3MutationAssessor
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), percent16.358.3MutationAssessor
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), percent16.158.8MutationAssessor
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), percent17.157.3MutationAssessor
Comparisons in Comprehensive assessment… (20)
ProtocolDatasetMetricFATHMM-MKLMutationAssessorHigher
OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Accuracy (OncoKB benchmark (positive set not stated), default categorical calls), fraction0.60.58FATHMM-MKL
OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Negative predictive value (OncoKB benchmark (positive set not stated), default categorical calls), fraction0.930.59FATHMM-MKL
OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Precision (OncoKB benchmark (positive set not stated), default categorical calls), fraction0.560.57MutationAssessor
OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Recall (OncoKB benchmark (positive set not stated), default categorical calls), fraction0.980.66FATHMM-MKL
OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)OncoKB-annotated somatic missense mutations (oncogenic, likely oncogenic and likely neutral)Specificity (OncoKB benchmark (positive set not stated), default categorical calls), fraction0.210.5MutationAssessor
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), fraction0.630.59FATHMM-MKL
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), fraction0.630.59FATHMM-MKL
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), fraction0.630.59FATHMM-MKL
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), fraction0.630.61FATHMM-MKL
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), fraction0.630.57FATHMM-MKL
Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Accuracy (cell viability drivers versus neutral, default categorical calls), fraction0.530.6MutationAssessor
Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Negative predictive value (cell viability drivers versus neutral, default categorical calls), fraction0.710.59FATHMM-MKL
Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Precision (cell viability drivers versus neutral, default categorical calls), fraction0.520.6MutationAssessor
Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Recall (cell viability drivers versus neutral, default categorical calls), fraction0.970.6FATHMM-MKL
Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Missense mutations with Ba/F3 and MCF10A cell viability calls (published and new)Specificity (cell viability drivers versus neutral, default categorical calls), fraction0.080.6MutationAssessor
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), fraction0.620.6FATHMM-MKL
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), fraction0.620.6FATHMM-MKL
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), fraction0.620.6FATHMM-MKL
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), fraction0.620.6FATHMM-MKL
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), fraction0.620.6FATHMM-MKL
Comparisons in Clinical likelihood ratios and balanced… (5)
ProtocolDatasetMetricFATHMM-MKLMutationAssessorHigher
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), unitless14.56.64FATHMM-MKL
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), count730FATHMM-MKL
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), unitless1.352.1MutationAssessor
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), count01FATHMM-MKL
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), unitless1.211.16FATHMM-MKL

What disagrees

Other studies
rank FATHMM-MKL above MutationAssessor in 19 of 25 comparisons
This study
ranks MutationAssessor above FATHMM-MKL in 7 of 7 comparisons
Compared
FATHMM-MKL, 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
7 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)
Rule
Ordering reversal; unknown
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)fathmm-MKL (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)20.2
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)fathmm-MKL (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)16.1
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)fathmm-MKL (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)0.667
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)fathmm-MKL (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)15.8
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, 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)fathmm-MKL (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)16.3
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)fathmm-MKL (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)16.1
Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML)fathmm-MKL (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)17.1
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 (50 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)fathmm-MKL_coding (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)14.5
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)fathmm-MKL_coding (Cubuk et al. 2021)BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021)False negatives (Functionally deleterious BRCA1 variants called tolerated)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)fathmm-MKL_coding (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)1.35
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)fathmm-MKL_coding (Cubuk et al. 2021)BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021)False negatives (Functionally deleterious BRCA2 variants called tolerated)0
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)fathmm-MKL_coding (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)1.21
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)False negatives (Functionally deleterious BRCA2 variants called tolerated)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)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 10: Performance metrics of 17 algorithms, default categories, benchmark 2 (OncoKB)FATHMM-MKL (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Accuracy (OncoKB benchmark (positive set not stated), default categorical calls)0.6
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)FATHMM-MKL (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Negative predictive value (OncoKB benchmark (positive set not stated), default categorical calls)0.93
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)FATHMM-MKL (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Precision (OncoKB benchmark (positive set not stated), default categorical calls)0.56
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)FATHMM-MKL (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Recall (OncoKB benchmark (positive set not stated), default categorical calls)0.98
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)FATHMM-MKL (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Specificity (OncoKB benchmark (positive set not stated), default categorical calls)0.21
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)FATHMM-MKL (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)0.63
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)FATHMM-MKL (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)0.63
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)FATHMM-MKL (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)0.63
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)FATHMM-MKL (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)0.63
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)FATHMM-MKL (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)0.63
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)FATHMM-MKL (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Accuracy (cell viability drivers versus neutral, default categorical calls)0.53
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)FATHMM-MKL (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Negative predictive value (cell viability drivers versus neutral, default categorical calls)0.71
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)FATHMM-MKL (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Precision (cell viability drivers versus neutral, default categorical calls)0.52
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)FATHMM-MKL (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Recall (cell viability drivers versus neutral, default categorical calls)0.97
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)FATHMM-MKL (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Specificity (cell viability drivers versus neutral, default categorical calls)0.08
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)FATHMM-MKL (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)0.62
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)FATHMM-MKL (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)0.62
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)FATHMM-MKL (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)0.62
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)FATHMM-MKL (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)0.62
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)FATHMM-MKL (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)0.62
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)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Accuracy (OncoKB benchmark (positive set not stated), default categorical calls)0.58
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)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Negative predictive value (OncoKB benchmark (positive set not stated), default categorical calls)0.59
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)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Precision (OncoKB benchmark (positive set not stated), default categorical calls)0.57
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)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Recall (OncoKB benchmark (positive set not stated), default categorical calls)0.66
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)MutationAssessor (Chen et al. 2020)OncoKB benchmark (positive set not stated), default categorical calls (Chen et al. 2020 Additional file 10)Specificity (OncoKB benchmark (positive set not stated), default categorical calls)0.5
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 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Accuracy (cell viability drivers versus neutral, default categorical calls)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Negative predictive value (cell viability drivers versus neutral, default categorical calls)0.59
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Precision (cell viability drivers versus neutral, default categorical calls)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Recall (cell viability drivers versus neutral, default categorical calls)0.6
Comprehensive assessment of computational algorithms in predicting cancer driver mutations; Chen et al. 2020, Additional file 22: Performance metrics of 17 algorithms, default categories, benchmark 5 (cell viability)MutationAssessor (Chen et al. 2020)Cell viability drivers versus neutral, default categorical calls (Chen et al. 2020 Additional file 22)Specificity (cell viability drivers versus neutral, default categorical calls)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)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

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