reported_finding: rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols
Descriptive fact transcribed from the pinned source.
Evidence
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
Evidence table
Inspect claims, sources and review details
Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.
One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.field reported_finding Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.source_locator Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.value Exomiser under Protocol D, PhenIX under Protocol D, AMELIE under Protocol B and LIRICAL were compared as optimised settings; in DDD, Exomiser ranked the causal gene first in 61.6% and within the top 5 in 86.6% of 305 trio cases. Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description Descriptive fact transcribed from the pinned source. Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Relationship: subject rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| name reported_finding: rare-ranking-20261009-protocol-yuan2024-ddd-parameter-protocols Context-only references | Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1 Version: Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
Release 2026-10-10-6e93f504adfc · Record review: source checked
1 source records and release history
- Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases · Original source · Scientific Reports 14:2845, published 2024-02-03; PMC10838329 full-text XML
Technical metadata and extraction receipts
Stable ID: rare-ranking-20261009-claim-yuan2024-optimal-protocols
- field
- reported_finding
- value
- Exomiser under Protocol D, PhenIX under Protocol D, AMELIE under Protocol B and LIRICAL were compared as optimised settings; in DDD, Exomiser ranked the causal gene first in 61.6% and within the top 5 in 86.6% of 305 trio cases.
- source locator
- Results 'Performance benchmarking for optimized prioritizers across different experiments' paragraph 1
- review
- method: source-hash-verification; ai-assisted-source-review; method note: Re-downloaded the article XML and matched its SHA-256, extracted the cited paragraphs with a separate parser and compared the claim text with them.; reviewer: claude; reviewer note: Separate Claude review agent, independent of the extractor; no human review claimed; date: 2026-10-09; artifact sha256: a5dbb24eb1e29ef8fde2832da1ff49a436464210d0e54d2a1fd10ad764a24b45; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10838329/fullTextXML; note: Hand transcription from the article text. Independent review 2026-10-09: Matches Results 'Performance benchmarking for optimized prioritizers' paragraph 1 and Table 1 (DDD Exomiser D: 61.6 and 86.6). The compared settings mix trio-mode Exomiser and PhenIX with singleton AMELIE and LIRICAL.