FRASER (2021 article implementation)
FRASER (2021 article implementation); bounded primary-source AMP candidate.
Overview
FRASER (2021 article implementation); bounded primary-source AMP candidate.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
Evaluations and results
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 |
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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-issue-12-config-fraser-2021-article-implementation
- method types
- conventional_pipeline
- foundation model eligible
- false
- missing metadata
- version: Exact caller release not extracted from the primary article; retain paper-era method identity, not a concrete current checkpoint.
- reported name
- FRASER (2021 article implementation)
- version
- Not reported
Related records
- configuration: FRASER (2021 article implementation) evaluation