FRASER Kremer cohort known pathogenic-event subsampling
FRASER Kremer cohort known pathogenic-event subsampling; bounded primary-source AMP candidate.
Overview
FRASER Kremer cohort known pathogenic-event subsampling; bounded primary-source AMP candidate.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
1 recorded evaluation, 2 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
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All evaluations
1 evaluation · 2 results. Different protocols are not a single leaderboard.
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| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: FRASER (2021 article implementation) | Protocol: FRASER Kremer cohort known pathogenic-event subsampling Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort | 85% mean known pathogenic splicing-event recovery at 30 samples % · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceFRASER (2021 article implementation) evaluation Randomly remove samples without known pathogenic splicing defect; measure fraction of 13 known events recovered at reduced cohort size. At 30 samples, 85% / mean 11 of 13; 100 samples needed to recover all irrespective of selected samples. FRASER controls latent confounding and models beta-binomial count fractions; cohort analysis uses FDR<0.1 and |effect|>0.3. Aggregation: Not reported Detection of aberrant splicing events in RNA-seq data using FRASER · Results subsection rare disease cohort, paragraph Par18; Supplementary Fig. S20 referenced |
| Configuration: FRASER (2021 article implementation) | Protocol: FRASER Kremer cohort known pathogenic-event subsampling Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort | 11 mean recovered known pathogenic events at 30 samples events · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceFRASER (2021 article implementation) evaluation Randomly remove samples without known pathogenic splicing defect; measure fraction of 13 known events recovered at reduced cohort size. At 30 samples, 85% / mean 11 of 13; 100 samples needed to recover all irrespective of selected samples. FRASER controls latent confounding and models beta-binomial count fractions; cohort analysis uses FDR<0.1 and |effect|>0.3. Aggregation: Not reported Detection of aberrant splicing events in RNA-seq data using FRASER · Results Par18; Supplementary Fig. S20 referenced |
Source checking is not independent reproduction. Release 2026-10-07-1448159e6a81.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Recorded evaluations
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Baseline coverage
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- Author-reported evaluations
- 1
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Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums
Coverage is derived from release 2026-10-07-1448159e6a81. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
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Strengths, limitations and unresolved questions
Evidence
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Evidence table
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Sources and history
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Release 2026-10-07-1448159e6a81 · Record review: source checked
1 source records and release history
- Detection of aberrant splicing events in RNA-seq data using FRASER · Original source · Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00
Technical metadata and extraction receipts
Stable ID: amp-oncology-rna-20261007-protocol-fraser-kremer-subsampling
- areas
- dna-genomes
- method types
- conventional_pipeline
- missing metadata
- None recorded
- scope note
- Direct patient-RNA known-event recovery does not establish prospective diagnostic accuracy or patient outcome benefit. Known pathogenic-event ascertainment and same-cohort retrospective selection can bias recovery. 30 is RNA sample subset size; do not silently equate to 30 independent patients. No blinded pathogenicity adjudication, general tissue transfer, VUS reclassification sensitivity or transcriptome-wide precision established by this endpoint. Subsampling repeats, exact score aggregation and numeric uncertainty unavailable from inspected main-text endpoint; supplementary PDF DNS retrieval failed. FRASER author correction 2022 changes GTEx version V7 to V6p; patient-Kremer endpoint not affected according to correction search result; exact correction bytes not retrieved.
- task
- Randomly remove samples without known pathogenic splicing defect; measure fraction of 13 known events recovered at reduced cohort size. At 30 samples, 85% / mean 11 of 13; 100 samples needed to recover all irrespective of selected samples. FRASER controls latent confounding and models beta-binomial count fractions; cohort analysis uses FDR<0.1 and |effect|>0.3.
- version
- 2021 article corrected 2022, Par18