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Exomiser 13.1.0, Protocol C (Yuan et al. 2024)

Exomiser 13.1.0, Protocol C (Yuan et al. 2024) as evaluated in the cited comparison.

Overview

Exomiser 13.1.0, Protocol C (Yuan et al. 2024) as evaluated in the cited comparison.

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

Evaluations and results

2 evaluations · 14 results. Different protocols are not a single leaderboard.

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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, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	48.5% top-1-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top1 (%)'
Configuration: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	91.8% top-10-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top10 (%)'
Configuration: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	93.8% top-20-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top20 (%)'
Configuration: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	95.7% top-30-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top30 (%)'
Configuration: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	96.4% top-40-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top40 (%)'
Configuration: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	85.6% top-5-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top5 (%)'
Configuration: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)	Protocol: Causal-gene rank in 305 DDD trio-family exomes across parameter protocols (Yuan et al. 2024 Table 1) Dataset: DDD 305 solved probands (Yuan et al. selection)	97.4% top-50-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on DDD rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Aggregation: Not reported Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Table 1 row (DDD, Exomiser, PROT C), column 'Top50 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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)	63.2% top-1-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top1 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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)	89.5% top-10-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top10 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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)	91.4% top-20-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top20 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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-30-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top30 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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 checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top40 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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)	88.2% top-5-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top5 (%)'
Configuration: Exomiser 13.1.0, Protocol C (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-50-accuracy percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Exomiser Protocol C on KGD rare-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 C), column 'Top50 (%)'

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Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Original source · Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML

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Technical metadata and extraction receipts

Stable ID: rare-ranking-20261009-config-yuan2024-exomiser-protocol-c

areas: dna-genomes
contexts: clinical_research
method types: conventional_pipeline
reported name: Exomiser 13.1.0, Protocol C (Yuan et al. 2024)
foundation model eligible: false
version: 13.1.0
parameters: Trio mode (parents' genotypes and disease status)
source locator: Table 1 rows 'Exomiser', PROT 'C'; Results 'Performance improvement assessment'
limitations: Protocol option tables are in Figure 2 (image, not read); descriptions are from the Results text, and the exact pathogenicity source in Protocols C and D is not stated in the text.

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