| 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 checkedMethods, coverage and sourceAberrant 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' |
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| 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 | 1 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 4 ('MUC1350: CLPP'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 3 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 12 ('MUC1361: MCOLN1'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 2 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 2 ('MUC1365: TIMMDC1'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 3 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 10 ('MUC1393: PANK2'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 4 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 9 ('MUC1395: COASY'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 5840 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 1 ('MUC1396: MGST1'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 1 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 5 ('MUC1398: TAZ'), column 'Aberrant splicing: saseR junctions' |
|---|
| 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 | 3990 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 11 ('MUC1404: ALDH18A1'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 9 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 7 ('MUC1410: TALDO1'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 2780 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 6 ('MUC1436: TANGO2'), column 'Aberrant splicing: saseR junctions' |
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| 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 | 5 known-gene-rank unitless · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAberrant 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 8 ('X76624: SFXN4'), column 'Aberrant splicing: saseR junctions' |
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