Evaluation

Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes

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Evaluation results

1 evaluation · 12 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	6 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 3 ('MUC1344: TIMMDC1'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	1 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 4 ('MUC1350: CLPP'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	1 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 12 ('MUC1361: MCOLN1'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	2 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 2 ('MUC1365: TIMMDC1'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	2 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 10 ('MUC1393: PANK2'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	4 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 9 ('MUC1395: COASY'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	4320 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 1 ('MUC1396: MGST1'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	1150 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 5 ('MUC1398: TAZ'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	1470 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 11 ('MUC1404: ALDH18A1'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	37 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 7 ('MUC1410: TALDO1'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	801 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 6 ('MUC1436: TANGO2'), column 'Aberrant splicing: FRASER 2.0 PCA'
Configuration: FRASER 2.0 PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	4 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Aberrant splicing: FRASER 2.0 PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Aggregation: Not reported saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 8 ('X76624: SFXN4'), column 'Aberrant splicing: FRASER 2.0 PCA'

Source checking is not independent reproduction. Release 2026-10-09-ba02f2f4a36e.

Evaluation procedure

rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank

Configuration: FRASER 2.0 PCA (Segers et al.)
Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2)
Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort

origin: Independent external evaluation
configuration: Primary source as retrieved 2026-10-09
dataset version: Kremer fibroblast RNA-seq count compendium (Zenodo release used by the FRASER paper)
split: No split
population: 12 diagnosed patient samples with a reported disease gene, ranked within a 119-sample analysis
adaptation: Latent factors fitted on the same 119 samples
metric implementation: Rank of the method's score for the disease gene within the patient sample
aggregation: Per patient
budget: Not reported
inputs: Junction read counts (79,077 junctions after FRASER filtering)
protocol id: rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

Reproduction

Split: No split
Adaptation: Latent factors fitted on the same 119 samples
Scoring implementation: Rank of the method's score for the disease gene within the patient sample

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

Evidence

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Evidence table

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19 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-09-ba02f2f4a36e
Property and statement	Original source and location	Review and provenance
attributes.comparison.adaptation Latent factors fitted on the same 119 samples Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.aggregation Per patient Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.budget Not reported Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.dataset_version Kremer fibroblast RNA-seq count compendium (Zenodo release used by the FRASER paper) Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.inputs Junction read counts (79,077 junctions after FRASER filtering) Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.metric_implementation Rank of the method's score for the disease gene within the patient sample Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.metric_implementation` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.population 12 diagnosed patient samples with a reported disease gene, ranked within a 119-sample analysis Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.population` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.protocol_id rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.protocol_id` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.split No split Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.split` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.limitations 1 values Run by the saseR authors, not the tool developers. Context-only references	saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Original source ↗ Table 2 column 'Aberrant splicing: FRASER 2.0 PCA' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML Retrieved: 2026-10-09T20:30:42Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.limitations` Source artifact SHA-256: `af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Sources and history

Release 2026-10-09-ba02f2f4a36e · Record review: source checked

1 source records and release history

saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Original source · Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML

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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261009-eval-segers2026-fraser2-pca

areas: rna-transcriptomes
contexts: clinical_research
origin: independent_paper
protocol: rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank
version: Primary source as retrieved 2026-10-09
comparison: dataset version: Kremer fibroblast RNA-seq count compendium (Zenodo release used by the FRASER paper); split: No split; population: 12 diagnosed patient samples with a reported disease gene, ranked within a 119-sample analysis; adaptation: Latent factors fitted on the same 119 samples; metric implementation: Rank of the method's score for the disease gene within the patient sample; aggregation: Per patient; budget: Not reported; inputs: Junction read counts (79,077 junctions after FRASER filtering); protocol id: rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank
source locator: Table 2 column 'Aberrant splicing: FRASER 2.0 PCA'
limitations: Run by the saseR authors, not the tool developers.

Related records

system: FRASER 2.0 PCA (Segers et al.)
assessment: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2)
data: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort
evaluation: segers2026-fraser2-pca-muc1344-03 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1350-04 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1361-12 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1365-02 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1393-10 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1395-09 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1396-01 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1398-05 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1404-11 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1410-07 known-gene-rank
evaluation: segers2026-fraser2-pca-muc1436-06 known-gene-rank
evaluation: segers2026-fraser2-pca-x76624-08 known-gene-rank

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