Protocol

Flagging new reanalysis candidates from Exomiser score changes across database releases (Vestito et al. 2024 Supplementary Table 1)

Variant-level classification of Exomiser candidates flagged by a human phenotype score increase and a variant score threshold, against the later diagnoses.

81 evaluations · 648 results

Overview

Variant-level classification of Exomiser candidates flagged by a human phenotype score increase and a variant score threshold, against the later diagnoses.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

81 recorded evaluations, 648 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Results

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All evaluations

81 evaluations · 648 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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 checked Methods, coverage and source Exomiser 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'

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Author-reported evaluations: 81

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Efficient reinterpretation of rare disease cases using Exomiser · Original source · npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML
Vestito et al. 2024, Supplementary Table 1 · Original source · 41525_2024_456_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (PDF title 'Supplementary_table_S1 copy', 4 pages)

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Technical metadata and extraction receipts

Stable ID: rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging

areas: dna-genomes
contexts: clinical_research
protocol: Exomiser 13.1.0 run on the 37 cases with database releases from February 2019 to February 2022. A variant is flagged when its human phenotype score increases by at least the stated difference between runs and its variant score exceeds the stated threshold. Each Exomiser variant is classified TP, FN, FP or TN against the diagnosed variants; recall, precision, F and F2 are derived in R 4.2.1. Fewer false positives means fewer candidates to review.
version: Supplementary Table 1
denominator: 37
source locator: Results paragraphs 5-6; Methods 'Reanalysis optimisation'; Supplementary Table 1
limitations: Retrospective: the 37 cases were already diagnosed, so this measures recovery of known later diagnoses, not new diagnostic yield.; The database releases compared are not printed in the supplement; the row for 0.2 and 0.8 matches the text's February 2019 versus February 2022 comparison (claim).; Run by the Exomiser developers.; The ACMG/AMP classifier condition reported in the text (precision 88%, recall 82%) is not in this table.
missing metadata: uncertainty: reason: unreported

Related records

uses data: 100,000 Genomes Project: 37 cases unsolved in February 2019 and later diagnosed through a new disease-gene association (Vestito et al. 2024)
subject: compared_database_releases: rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging
subject: candidates_to_review: rare-reanalysis-20261009-protocol-vestito2024-new-candidate-flagging
assessment: Exomiser reanalysis flag 0.1/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.1/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.2/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.3/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.4/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.5/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.6/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.7/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.8/0.9: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.1: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.2: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.3: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.4: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.5: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.6: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.7: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.8: later-diagnosed 100kGP cases
assessment: Exomiser reanalysis flag 0.9/0.9: later-diagnosed 100kGP cases
assessed by: Reanalyse unresolved rare-disease cases

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