| attributes.comparison.adaptation Threshold pair as stated per configuration Context-only references | Efficient reinterpretation of rare disease cases using Exomiser Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML Retrieved: 2026-10-09T20:36:38Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.adaptation Source artifact SHA-256: b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058 Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.adaptation Threshold pair as stated per configuration Context-only references | Vestito et al. 2024, Supplementary Table 1 Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 41525_2024_456_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (PDF title 'Supplementary_table_S1 copy', 4 pages) Retrieved: 2026-10-09T20:36:47Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.adaptation Source artifact SHA-256: d761ccee3944cd762d1c07e5388ed2810bd57634e1fc2c23a054b547a710a5ad Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.aggregation All 37 cases pooled Context-only references | Efficient reinterpretation of rare disease cases using Exomiser Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML Retrieved: 2026-10-09T20:36:38Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.aggregation Source artifact SHA-256: b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058 Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.aggregation All 37 cases pooled Context-only references | Vestito et al. 2024, Supplementary Table 1 Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 41525_2024_456_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (PDF title 'Supplementary_table_S1 copy', 4 pages) Retrieved: 2026-10-09T20:36:47Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.aggregation Source artifact SHA-256: d761ccee3944cd762d1c07e5388ed2810bd57634e1fc2c23a054b547a710a5ad Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.budget Not reported Context-only references | Efficient reinterpretation of rare disease cases using Exomiser Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML Retrieved: 2026-10-09T20:36:38Z | missing or unspecified No individual claim review recorded author reported Audit detailsField: attributes.comparison.budget Source artifact SHA-256: b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058 Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.budget Not reported Context-only references | Vestito et al. 2024, Supplementary Table 1 Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 41525_2024_456_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (PDF title 'Supplementary_table_S1 copy', 4 pages) Retrieved: 2026-10-09T20:36:47Z | missing or unspecified No individual claim review recorded author reported Audit detailsField: attributes.comparison.budget Source artifact SHA-256: d761ccee3944cd762d1c07e5388ed2810bd57634e1fc2c23a054b547a710a5ad Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.dataset_version 37 later-diagnosed 100kGP cases Context-only references | Efficient reinterpretation of rare disease cases using Exomiser Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML Retrieved: 2026-10-09T20:36:38Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.dataset_version Source artifact SHA-256: b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058 Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.dataset_version 37 later-diagnosed 100kGP cases Context-only references | Vestito et al. 2024, Supplementary Table 1 Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 41525_2024_456_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (PDF title 'Supplementary_table_S1 copy', 4 pages) Retrieved: 2026-10-09T20:36:47Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.dataset_version Source artifact SHA-256: d761ccee3944cd762d1c07e5388ed2810bd57634e1fc2c23a054b547a710a5ad Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.inputs Original 100kGP VCFs; Exomiser 13.1.0 with database releases February 2019 to February 2022 Context-only references | Efficient reinterpretation of rare disease cases using Exomiser Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML Retrieved: 2026-10-09T20:36:38Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.inputs Source artifact SHA-256: b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058 Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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| attributes.comparison.inputs Original 100kGP VCFs; Exomiser 13.1.0 with database releases February 2019 to February 2022 Context-only references | Vestito et al. 2024, Supplementary Table 1 Original source ↗ Supplementary Table 1 line 4 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 41525_2024_456_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (PDF title 'Supplementary_table_S1 copy', 4 pages) Retrieved: 2026-10-09T20:36:47Z | not individually reviewed No individual claim review recorded author reported Audit detailsField: attributes.comparison.inputs Source artifact SHA-256: d761ccee3944cd762d1c07e5388ed2810bd57634e1fc2c23a054b547a710a5ad Hash scope: Hash scope not separately documented; inspect source record Inspected artifact |
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