Silverstein et al.: tools detected 28 of 68 known diagnoses
Known diagnoses detected of NIH neuromuscular diagnosed RNA-seq truth set (Silverstein et al. 2026)
28 of 68 known diagnoses with aberrant RNA events (41%) detected across all tool analyses; splicing tools 24 of 68; allelic imbalance found 4 not found by other tools
Across splicing, expression and allelic-imbalance tools, 28 of 68 known diagnoses with RNA events were detected.
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.
12 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Claimed field known_diagnoses_detected Context-only references | Benchmarking RNA-seq Tools for Real-World Diagnostic Applications (Silverstein et al., medRxiv 2026) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1, posted 2026-01-28; JATS source 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 |
| Claimed field known_diagnoses_detected Context-only references | Silverstein et al. 2026 Supplemental Tables S1-S10 (medRxiv media-3.xlsx) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1 supplement DC3 (file 344940_file09.xlsx in the JATS 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 |
| Source location Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Context-only references | Benchmarking RNA-seq Tools for Real-World Diagnostic Applications (Silverstein et al., medRxiv 2026) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1, posted 2026-01-28; JATS source 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 |
| Source location Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Context-only references | Silverstein et al. 2026 Supplemental Tables S1-S10 (medRxiv media-3.xlsx) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1 supplement DC3 (file 344940_file09.xlsx in the JATS 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 |
| Claimed value 28 of 68 known diagnoses with aberrant RNA events (41%) detected across all tool analyses; splicing tools 24 of 68; allelic imbalance found 4 not found by other tools Context-only references | Benchmarking RNA-seq Tools for Real-World Diagnostic Applications (Silverstein et al., medRxiv 2026) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1, posted 2026-01-28; JATS source 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 |
| Claimed value 28 of 68 known diagnoses with aberrant RNA events (41%) detected across all tool analyses; splicing tools 24 of 68; allelic imbalance found 4 not found by other tools Context-only references | Silverstein et al. 2026 Supplemental Tables S1-S10 (medRxiv media-3.xlsx) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1 supplement DC3 (file 344940_file09.xlsx in the JATS 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 Across splicing, expression and allelic-imbalance tools, 28 of 68 known diagnoses with RNA events were detected. Context-only references | Benchmarking RNA-seq Tools for Real-World Diagnostic Applications (Silverstein et al., medRxiv 2026) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1, posted 2026-01-28; JATS source 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 Across splicing, expression and allelic-imbalance tools, 28 of 68 known diagnoses with RNA events were detected. Context-only references | Silverstein et al. 2026 Supplemental Tables S1-S10 (medRxiv media-3.xlsx) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1 supplement DC3 (file 344940_file09.xlsx in the JATS 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 rna-splicing-20261011-silverstein2026-data-nih-neuromuscular-diagnosed-rnaseq Context-only references | Benchmarking RNA-seq Tools for Real-World Diagnostic Applications (Silverstein et al., medRxiv 2026) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1, posted 2026-01-28; JATS source 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 rna-splicing-20261011-silverstein2026-data-nih-neuromuscular-diagnosed-rnaseq Context-only references | Silverstein et al. 2026 Supplemental Tables S1-S10 (medRxiv media-3.xlsx) Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv preprint version 1 supplement DC3 (file 344940_file09.xlsx in the JATS 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 2026-10-22-1b7cf027e4f6 · Record review: source checked
2 source records and release history
- Benchmarking RNA-seq Tools for Real-World Diagnostic Applications (Silverstein et al., medRxiv 2026) · Original source · medRxiv preprint version 1, posted 2026-01-28; JATS source XML
- Silverstein et al. 2026 Supplemental Tables S1-S10 (medRxiv media-3.xlsx) · Original source · medRxiv preprint version 1 supplement DC3 (file 344940_file09.xlsx in the JATS XML)
Technical metadata and extraction receipts
Stable ID: rna-splicing-20261011-silverstein2026-claim-known-diagnoses-detected
- field
- known_diagnoses_detected
- value
- 28 of 68 known diagnoses with aberrant RNA events (41%) detected across all tool analyses; splicing tools 24 of 68; allelic imbalance found 4 not found by other tools
- source locator
- Abstract Results; Results 'Poor predictive performance across tools' paragraph 1; Discussion paragraph 2; Results 'Recall rate of allelic imbalance highlights ANEVA-H' paragraph 1
- review
- method: source-hash-verification; independent-cell-check; automated-source-review; scope-review; reviewer: claude; reviewer note: Independent Claude review agent reviewer-scnv; did not extract this batch; no human review claimed; date: 2026-10-12; artifact sha256: 8b987ac49f086adc0a191522436529a70f243505f7dda9926786004e15b4601c; retrieval url: https://www.medrxiv.org/content/early/2026/01/28/2026.01.27.26344940.source.xml; method note: Drafted by the collector agent uc-splicing-cnv from the pinned source.; note: Checked by reviewer-scnv against the pinned source; verdict in docs/reviews/use-cases/splicing-cnv-use-cases-2026-10-12.md and in this batch's review.md.