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1 evaluation · 7 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 48% top-1-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top1 (%)' |
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 82.2% top-10-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top10 (%)' |
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 86.8% top-20-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top20 (%)' |
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 90.1% top-30-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top30 (%)' |
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 92.1% top-40-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top40 (%)' |
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 76.3% top-5-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top5 (%)' |
| Configuration: Exomiser 13.1.0, Protocol B (Yuan et al. 2024) | Protocol: Causal-gene rank in 152 KGD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: KingMed in-house trio cohort, 152 families (Yuan et al. 2024) | 92.8% top-50-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcerare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (KGD, Exomiser, PROT B), column 'Top50 (%)' |
Source checking is not independent reproduction. Release 2026-10-10-6e93f504adfc.
rare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols
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18 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.comparison.adaptation REVEL and MVP pathogenicity sources; singleton Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.aggregation Percentage of cases Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.budget Top 1 to top 50 genes Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.dataset_version As published Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.inputs Proband HPO terms and exome VCF; singleton Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.metric_implementation Rank of the causal gene per case Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.population 152 KGD trios Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.protocol_id rare-ranking-20261009-protocol-yuan2024-kgd-parameter-protocols Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.split No split Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.origin independent_paper Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Table 1 rows 'KGD', 'Exomiser', PROT 'B' Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Release 2026-10-10-6e93f504adfc · Record review: source checked
Stable ID: rare-ranking-20261009-eval-yuan2024-kgd-exomiser-protocol-b