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AlphaGenome raw splice site score, maximum aggregation (Jaganathan et al. 2026)

AlphaGenome raw splice site score, maximum aggregation: 1 Mb context; raw SPLICE_SITES score with maximum aggregation; one of the 40 scoring configurations tested, reported in the Methods only for GTEx and GEL GT/AG auPRC.

2 evaluations · 2 results

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Evaluations and results

2 evaluations · 2 results. Different protocols are not a single leaderboard.

Sorted by AUPRC (all variants; essential splice variants excluded) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

All 2 result rows with coverage, uncertainty and sources
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Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: AlphaGenome raw splice site score, maximum aggregation (Jaganathan et al. 2026)Protocol: Cryptic splice site activation by rare GT/AG-creating variants in Genomics England blood RNA-seq (SpliceAI2 paper, auPRC)
Dataset: Genomics England rare-disease participants with WGS and blood RNA-seq (Jaganathan et al. 2026)
0.45 AUPRC (all variants)
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 raw splice site score on Genomics England GT/AG (auPRC, SpliceAI2 paper)

rna-splicing-20261013-spliceai2-protocol-gel-gtag-detection

Aggregation: Not reported

A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Methods 'Evaluation of competing methods', AlphaGenome paragraph: '... GEL GT/AG auPRC (0.45)'
Configuration: AlphaGenome raw splice site score, maximum aggregation (Jaganathan et al. 2026)Protocol: Cryptic splice site activation by rare GT/AG-creating SNVs, GTEx WGS and RNA-seq (SpliceAI2 paper, auPRC)
Dataset: GTEx rare GT/AG-creating SNVs with RNA-seq cryptic splicing labels (Jaganathan et al. 2026)
0.63 AUPRC (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 raw splice site score on GTEx GT/AG (auPRC, SpliceAI2 paper)

rna-splicing-20261013-spliceai2-protocol-gtex-gtag-detection

Aggregation: Not reported

A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Methods 'Evaluation of competing methods', AlphaGenome paragraph: '... GTEx GT/AG auPRC (0.63) ...'

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Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
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Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

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Stable ID: rna-splicing-20261013-spliceai2-config-alphagenome-splice-site-max

areas
dna-genomes
contexts
research
method types
supervised_machine_learning
foundation model eligible
false
reported name
AlphaGenome (raw splice site score)
parameters
1 Mb context; raw SPLICE_SITES score with maximum aggregation; one of the 40 scoring configurations tested, reported in the Methods only for GTEx and GEL GT/AG auPRC
access reuse
Run at the University of Oxford by co-authors
source locator
Methods 'Evaluation of competing methods', AlphaGenome paragraph
missing metadata
version: reason: unreported; note: API or weights version not printed.
provenance note
AlphaGenome raw splice site score, maximum aggregation (Jaganathan et al. 2026), as evaluated in the SpliceAI2 paper.
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