Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort; bounded primary-source AMP candidate.
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Release 2026-10-07-1448159e6a81 · Evidence verified: Not verified
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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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7 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.accession Not reported Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | missing or unspecified No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.assay non-strand-specific RNA-seq; STAR 2.4.2a two-pass, hg19 Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.population 119 RNA-seq samples from 105 individuals; 13 known pathogenic splicing events for sample-size analysis Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.split retrospective reanalysis and subsampling; no held-out predictive test split Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.version Not reported Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | missing or unspecified No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort; bounded primary-source AMP candidate. Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| name Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort Context-only references | Detection of aberrant splicing events in RNA-seq data using FRASER No field-specific location recorded Version: Europe PMC fullTextXML retrieved 2026-10-07T12:23:57.289375+00:00 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
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Release 2026-10-07-1448159e6a81 · Record review: source checked
Stable ID: amp-oncology-rna-20261007-dataset-kremer-patient-rna