Dataset

KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)

In-house exome cohort with a wide range of syndromes, each with a single causal gene interpreted under ACMG/AMP.

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Release 2026-10-10-6e93f504adfc · Evidence verified: Not verified

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Evaluation results

11 evaluations · 77 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: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	2.4% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 1(%)'
Configuration: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	16.3% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 10(%)'
Configuration: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	23% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 20(%)'
Configuration: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	25.4% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 30(%)'
Configuration: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	29.2% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 40(%)'
Configuration: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	9.6% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 5(%)'
Configuration: AMELIE-HPO default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	30.6% 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 AMELIE-HPO default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 22 (KMCGD, AMELIE-HPO), column 'TOP 50(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	57.9% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 1(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	78.9% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 10(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	81.3% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 20(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	81.8% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 30(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	81.8% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 40(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	73.7% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 5(%)'
Configuration: AMELIE default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	82.8% 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 AMELIE default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 16 (KMCGD, AMELIE), column 'TOP 50(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	6.2% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 1(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	12.9% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 10(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	15.3% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 20(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	18.2% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 30(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	18.2% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 40(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	10.5% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 5(%)'
Configuration: DeepPVP default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	18.7% 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 DeepPVP default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 14 (KMCGD, DeepPVP), column 'TOP 50(%)'
Configuration: Exomiser default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	26.3% 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 default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 13 (KMCGD, Exomiser), column 'TOP 1(%)'
Configuration: Exomiser default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	75.1% 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 default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 13 (KMCGD, Exomiser), column 'TOP 10(%)'
Configuration: Exomiser default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	78.9% 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 default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 13 (KMCGD, Exomiser), column 'TOP 20(%)'
Configuration: Exomiser default, singleton (Yuan et al. 2022)	Protocol: Causal-gene rank in 209 in-house exomes, default singleton runs (Yuan et al. 2022 SM Table 3) Dataset: KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022)	82.8% 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 default singleton on KMCGD 209 rare-ranking-20261009-protocol-yuan2022-kmcgd-singleton-default Aggregation: Not reported Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases; Yuan et al. 2022, SM Table 3 (accuracy in each top level experiment) · SM Table 3 row 13 (KMCGD, Exomiser), column 'TOP 30(%)'

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8 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-6e93f504adfc
Property and statement	Original source and location	Review and provenance
attributes.access In-house; not public Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.access` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.patient_count 209 Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.patient_count` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.population 209 Chinese patients with a wide range of syndromes who received a molecular diagnosis by WES at the authors' laboratory in 2018 to 2021; mean 2.0 HPO terms (ambiguous terms removed) and 83,587 variants per case Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.population` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.source_locator Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.split No split Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.split` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.version As published Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.version` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
description In-house exome cohort with a wide range of syndromes, each with a single causal gene interpreted under ACMG/AMP. Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `description` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
name KingMed Changsha in-house cohort, 209 solved cases (Yuan et al. 2022) Context-only references	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1 Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	not individually reviewed No individual claim review recorded Audit details Field: `name` Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Release 2026-10-10-6e93f504adfc · Record review: source checked

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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases · Original source · Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML

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Technical metadata and extraction receipts

Stable ID: rare-ranking-20261009-data-kmcgd-209

areas: dna-genomes
contexts: clinical_research
version: As published
patient count: 209
population: 209 Chinese patients with a wide range of syndromes who received a molecular diagnosis by WES at the authors' laboratory in 2018 to 2021; mean 2.0 HPO terms (ambiguous terms removed) and 83,587 variants per case
split: No split
access: In-house; not public
source locator: Results 'Overview of curated datasets and selected methods' paragraph 1; Table 1; Discussions paragraph 1

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