Protocol

Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2)

Rank of each reported disease gene among the genes of the patient's sample by aberrant-splicing score.

Overview

Rank of each reported disease gene among the genes of the patient's sample by aberrant-splicing score.

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3 recorded evaluations, 36 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Results

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All evaluations

3 evaluations · 36 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 autoencoder (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	9 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	7 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	3690 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	1030 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	1960 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	87 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	831 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 AUTO 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 AUTO'
Configuration: FRASER 2.0 autoencoder (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	53 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 AUTO 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 AUTO'
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'
Configuration: saseR-junctions (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	7 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Aberrant splicing: saseR junctions 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: saseR junctions'

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

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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-protocol-segers2026-kremer-splicing-rank

areas: rna-transcriptomes
contexts: clinical_research
protocol: Single analysis of the 119-sample Kremer fibroblast junction-count compendium (FRASER paper Zenodo release, FRASER standard filtering, 79,077 junctions); rank of the score of the disease-related gene validated in each of 12 patient samples (TIMMDC1 counted twice for two patients).
version: Table 2
source locator: Table 2 'Aberrant splicing' columns; Results 'Case study: Kremer dataset' paragraph 1; Methods 'Data'
limitations: Developer comparison: saseR authors ran FRASER 2.0.; Disease genes include expression and mono-allelic-expression cases (for example ALDH18A1, MCOLN1), not only splicing defects.; Same cohort used to develop and report FRASER; genes were reported in earlier Kremer, Brechtmann and Mertes analyses.; LeafCutterMD and SPOT were not run on Kremer because only junction counts are public.
missing metadata: metric definition: reason: unreported; note: Tie handling and total genes ranked per sample not printed

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