Protocol

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

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

Overview

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

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

4 recorded evaluations, 48 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

4 evaluations · 48 results. Different protocols are not a single leaderboard.

Filter evaluations

Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	212 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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	3 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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	1720 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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER autoencoder (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	5 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 expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER AUTO'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	3 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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	122 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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	772 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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OUTRIDER PCA (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (Segers et al. Table 2) Dataset: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort	100 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 expression: OUTRIDER PCA on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OUTRIDER PCA'
Configuration: OutSingle (Segers et al.)	Protocol: Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant expression (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 expression: OutSingle on 12 Kremer patients with known disease genes rna-splicing-20261009-protocol-segers2026-kremer-expression-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 expression: OutSingle'

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

Methods and evaluation design

Procedure, tasks and evaluated configurations

Recorded evaluations

Each evaluation records what was tested and under which conditions.

Baseline coverage

Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.

0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

No execution recipe linked to this protocol. Recipe availability does not establish a completed evaluation.

Author-reported evaluations: 1
External evaluations: 3

Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.

Null control

Proposed control: requires review

Select a task-valid null control after reviewing inputs and metric

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Conventional reference

Proposed control: requires review

Select an upstream conventional reference after reviewing the full protocol

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Protocol coverage CSV (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)

Coverage is derived from release 2026-10-09-ba02f2f4a36e. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.

Run instructions

No runnable recipe has been reviewed for this protocol. Dataset access, model requirements, licences and compute requirements must be checked against its sources before execution.

Strengths, limitations and unresolved questions

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

0 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

No evidence rows match these filters. Choose another scope or clear the search.

All evidence (JSONL) (gzip)How to read the evidence

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

Download this release (gzip)

Technical metadata and extraction receipts

Stable ID: rna-splicing-20261009-protocol-segers2026-kremer-expression-rank

areas: rna-transcriptomes
contexts: clinical_research
protocol: Single analysis of 119 Kremer fibroblast gene-count samples (14,379 genes after filtering); rank of the score of the disease-related gene in each of 12 patient samples.
version: Table 2
source locator: Table 2 'Aberrant expression' columns; Results 'Case study: Kremer dataset'; Methods 'Data'
limitations: Developer comparison: saseR authors ran OUTRIDER and OutSingle.; Expression outliers are indirect evidence for splice-altering variants.
missing metadata: metric definition: reason: unreported; note: Tie handling and total genes ranked per sample not printed

Related records

uses data: Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort
assessment: Aberrant expression: OUTRIDER AUTO on 12 Kremer patients with known disease genes
assessment: Aberrant expression: OUTRIDER PCA on 12 Kremer patients with known disease genes
assessment: Aberrant expression: OutSingle on 12 Kremer patients with known disease genes
assessment: Aberrant expression: saseR on 12 Kremer patients with known disease genes
assessed by: Select a patient-RNA splicing-variant validation workflow

Suggest a correction