Dataset

GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)

GTEx v8 significant sQTL variant-junction pairs, restricted to SNVs within 50 bp of either junction end; fine-mapped if PIP >= 0.9 in at least one tissue, null if PIP < 0.1 in all tissues and absolute mean effect size below 0.5.

Evaluation results

8 evaluations · 24 results. Different protocols are not a single leaderboard.

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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: AlphaGenome raw composite splice score, maximum aggregation (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.73 AUROC (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AlphaGenome on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'AlphaGenome', column 'All'
Configuration: AlphaGenome raw composite splice score, maximum aggregation (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.71 AUROC (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AlphaGenome on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'AlphaGenome', column 'Exon'
Configuration: AlphaGenome raw composite splice score, maximum aggregation (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.76 AUROC (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AlphaGenome on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'AlphaGenome', column 'Intron'
Configuration: Pangolin, per-position score at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.7 AUROC (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Pangolin on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'Pangolin', column 'All'
Configuration: Pangolin, per-position score at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.68 AUROC (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Pangolin on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'Pangolin', column 'Exon'
Configuration: Pangolin, per-position score at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.72 AUROC (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Pangolin on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'Pangolin', column 'Intron'
Configuration: SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.71 AUROC (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'SpliceAI', column 'All'
Configuration: SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.68 AUROC (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'SpliceAI', column 'Exon'
Configuration: SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.74 AUROC (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'SpliceAI', column 'Intron'
Configuration: SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.76 AUROC (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI2 on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'SpliceAI2', column 'All'
Configuration: SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.73 AUROC (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI2 on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'SpliceAI2', column 'Exon'
Configuration: SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL SNVs against non-prioritised SNVs near junction ends (SpliceAI2 paper, auROC) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.8 AUROC (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI2 on GTEx sQTL (auroc, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-classification Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (auROC)', row 'SpliceAI2', column 'Intron'
Configuration: AlphaGenome raw composite splice score, maximum aggregation (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.68 Spearman (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AlphaGenome on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'AlphaGenome', column 'All'
Configuration: AlphaGenome raw composite splice score, maximum aggregation (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.64 Spearman (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AlphaGenome on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'AlphaGenome', column 'Exon'
Configuration: AlphaGenome raw composite splice score, maximum aggregation (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.76 Spearman (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AlphaGenome on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'AlphaGenome', column 'Intron'
Configuration: Pangolin, per-position score at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.66 Spearman (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Pangolin on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'Pangolin', column 'All'
Configuration: Pangolin, per-position score at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.62 Spearman (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Pangolin on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'Pangolin', column 'Exon'
Configuration: Pangolin, per-position score at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.74 Spearman (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Pangolin on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'Pangolin', column 'Intron'
Configuration: SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.65 Spearman (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'SpliceAI', column 'All'
Configuration: SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.62 Spearman (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'SpliceAI', column 'Exon'
Configuration: SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.73 Spearman (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'SpliceAI', column 'Intron'
Configuration: SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.73 Spearman (all variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI2 on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'SpliceAI2', column 'All'
Configuration: SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.7 Spearman (exonic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI2 on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'SpliceAI2', column 'Exon'
Configuration: SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)	Protocol: GTEx v8 fine-mapped sQTL effect size prediction (SpliceAI2 paper, Spearman) Dataset: GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026)	0.8 Spearman (intronic variants; essential splice variants excluded) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source SpliceAI2 on GTEx sQTL (spearman-correlation, SpliceAI2 paper) rna-splicing-20261013-spliceai2-protocol-gtex-sqtl-effect-size Aggregation: Not reported A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Extended Data Fig. 2 (page 52), panel 'GTEx sQTL (ρ)', row 'SpliceAI2', column 'Intron'

Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.

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Readiness checks, gaps and artifacts

Release 2026-10-22-1b7cf027e4f6 · Evidence verified: Not verified

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Verified: Not verified

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Evidence

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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.

8 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statement	Original source and location	Review and provenance
Negatives 3824 Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.negatives` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Population 2,385 fine-mapped and 3,824 null variants after excluding essential splice dinucleotides; effect sizes averaged across tissues with a significant association Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.population` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Positives 2385 Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.positives` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Source location Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Split No split; scored with pretrained models Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.split` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Version GTEx v8 significant sQTL pairs and SuSiE fine-mapping results (references 51 and 52) Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.version` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Description GTEx v8 significant sQTL variant-junction pairs, restricted to SNVs within 50 bp of either junction end; fine-mapped if PIP >= 0.9 in at least one tissue, null if PIP < 0.1 in all tissues and absolute mean effect size below 0.5. Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `description` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact
Name GTEx v8 sQTL fine-mapped and null SNVs near junction ends (Jaganathan et al. 2026) Context-only references	A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Original source ↗ Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) Retrieved: 2026-10-13T12:40:34Z	not individually reviewed No individual claim review recorded Audit details Field: `name` Source artifact SHA-256: `f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b` Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Inspected artifact

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Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

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A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Original source · bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)

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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261013-spliceai2-data-gtex-sqtl

areas: dna-genomes; rna-transcriptomes
contexts: research
version: GTEx v8 significant sQTL pairs and SuSiE fine-mapping results (references 51 and 52)
population: 2,385 fine-mapped and 3,824 null variants after excluding essential splice dinucleotides; effect sizes averaged across tissues with a significant association
positives: 2385
negatives: 3824
split: No split; scored with pretrained models
source locator: Methods 'Variant effect benchmarks', GTEx sQTL paragraph; Fig. 1d
missing metadata: reuse restrictions: reason: unreported; note: Access terms for the downloaded sQTL and fine-mapping files are not stated.

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