| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.289 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'Fscore' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.504 f-beta-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'F2score' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0 false-negative-count count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'FN' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 182 false-positive-count count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'FP' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.169 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'precision' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 1 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'recall' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 1630 true-negative-count count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'TN' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.1 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 37 true-positive-count count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 54 (Diff human score 0.1, Var score 0.1), column 'TP' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.333 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'Fscore' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.556 f-beta-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'F2score' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0 false-negative-count count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'FN' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 148 false-positive-count count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'FP' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.2 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'precision' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 1 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'recall' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 1660 true-negative-count count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'TN' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.2 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 37 true-positive-count count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 47 (Diff human score 0.1, Var score 0.2), column 'TP' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.368 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'Fscore' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.593 f-beta-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'F2score' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0 false-negative-count count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'FN' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 127 false-positive-count count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'FP' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.226 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'precision' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 1 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'recall' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 1680 true-negative-count count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'TN' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.3 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 37 true-positive-count count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 41 (Diff human score 0.1, Var score 0.3), column 'TP' |
|---|
| Configuration: Exomiser 13.1.0 reanalysis flag: phenotype score increase 0.1, variant score 0.4 (Vestito et al. 2024) | Protocol: Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)
Dataset: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024) | 0.411 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser reanalysis flag 0.1/0.4: later-diagnosed 100kGP cases rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging Aggregation: Not reported Vestito et al. 2024, Supplementary Table 1 · Supplementary Table 1 line 35 (Diff human score 0.1, Var score 0.4), column 'Fscore' |
|---|