Rare-disease probands whose PanelApp panels have fewer than 100 confirmed or probable genes, restricted to dominant panel genes, excluding genes with a reported TIER1 variant; singleton rare SNVs and indels.
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0 of 4 readiness checks met. These checks assess whether the evidence supports a reproducible investigation; a source-checked score alone does not meet them.
Release 2026-10-22-1b7cf027e4f6 · Evidence verified: Not verified
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8 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Population 8,778 probands with panels under 100 genes; 7,504 probands with dominant panel genes Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Probands 7504 Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Reuse restrictions Controlled access: Genomics England National Genomic Research Library (project ID 754), only inside the Genomics England Research Environment, for approved Genomics England Research Network members under participant-led governance. Benchmark variant lists are not released. Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Source location Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Split No split; ten phenotype-shuffled datasets as background Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Version Genomics England NGRL (project 754); PanelApp accessed 25 April 2023; GEL v16 TIER1 exclusions Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Description Rare-disease probands whose PanelApp panels have fewer than 100 confirmed or probable genes, restricted to dominant panel genes, excluding genes with a reported TIER1 variant; singleton rare SNVs and indels. Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
| Name Genomics England 100,000 Genomes Project probands with dominant-disorder panels (Jaganathan et al. 2026) Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Methods 'Genomics England rare disease analysis', 'Panel-matched disease gene enrichment' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. |
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
Stable ID: rna-splicing-20261013-spliceai2-data-gel-100kgp-dominant