input_difference: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis
Input difference of Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026)
Manual reanalysis re-aligned and re-called the original FASTQ files with DRAGEN v4.2.4 (v4.2 for SMN, STR and SV calling); Talos used archived per-case VCFs from the initial DRAGEN v3.7.5 analysis, with a workflow customised to accept DRAGEN-annotated VCFs without recalling variants.
Descriptive fact transcribed from the pinned source.
Evidence
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Evidence table
Inspect claims, sources and review details
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6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Claimed field input_difference Context-only references | Automated versus manual reanalysis in rare disease genomics Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Source location Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Context-only references | Automated versus manual reanalysis in rare disease genomics Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Claimed value Manual reanalysis re-aligned and re-called the original FASTQ files with DRAGEN v4.2.4 (v4.2 for SMN, STR and SV calling); Talos used archived per-case VCFs from the initial DRAGEN v3.7.5 analysis, with a workflow customised to accept DRAGEN-annotated VCFs without recalling variants. Context-only references | Automated versus manual reanalysis in rare disease genomics Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Description Descriptive fact transcribed from the pinned source. Context-only references | Automated versus manual reanalysis in rare disease genomics Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Relationship: subject reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Context-only references | Automated versus manual reanalysis in rare disease genomics Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Name input_difference: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Context-only references | Automated versus manual reanalysis in rare disease genomics Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
Sources and history
Release 2026-10-10-457d7eaef7d6 · Record review: source checked
1 source record and release history
- Automated versus manual reanalysis in rare disease genomics · Original source · medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML
Technical metadata and extraction receipts
Stable ID: reanalysis-kaschta-20261010-claim-unequal-inputs
- field
- input_difference
- value
- Manual reanalysis re-aligned and re-called the original FASTQ files with DRAGEN v4.2.4 (v4.2 for SMN, STR and SV calling); Talos used archived per-case VCFs from the initial DRAGEN v3.7.5 analysis, with a workflow customised to accept DRAGEN-annotated VCFs without recalling variants.
- source locator
- Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1; 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1; 'Automated Reanalysis Using Talos' P2-P3
- review
- method: source-hash-verification; ai-assisted-source-review; method note: Re-downloaded the JATS XML, matched its SHA-256 and compared the claim with the cited paragraphs.; reviewer: claude; reviewer note: Separate Claude review agent, independent of the extractor; no human review claimed; date: 2026-10-10; artifact sha256: db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd; retrieval url: https://www.medrxiv.org/content/early/2026/05/19/2026.05.16.26352295.source.xml; note: Independent review 2026-10-10: Matches Methods 'Genome Sequencing, Primary Processing, and Quality Control' P1 (DRAGEN v3.7.5), 'Manual Reanalysis' P1 (v4.2.4 small variants; v4.2 SMN, STR, SV) and 'Automated Reanalysis Using Talos' P2 and P3.