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SpliceAI2 fine-tuned on myotonic dystrophy type 1 muscle RNA-seq (Jaganathan et al. 2026)

SpliceAI2 fine-tuned on myotonic dystrophy type 1 muscle RNA-seq: Four 147-RBP signatures (healthy and low, medium and high disease severity), with inferred free MBNL1 expression 9.17, 6.01, 3.67 and 1.32 log2 TMM CPM (n = 11, 15, 14 and 15).

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Configuration: SpliceAI2 fine-tuned on myotonic dystrophy type 1 muscle RNA-seq (Jaganathan et al. 2026)Protocol: MBNL1-associated junction usage differences across myotonic dystrophy severity groups, held-out genes (SpliceAI2 paper, Pearson)
Dataset: Myotonic dystrophy type 1 tibialis anterior RNA-seq, GEO GSE86356 (as used by Jaganathan et al. 2026)		0.26 Pearson (mean over disease-severity condition pairs; held-out genes)
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SpliceAI2 myotonic dystrophy fine-tune on MBNL1-associated junction usage differences

rna-splicing-20261013-spliceai2-protocol-dm1-mbnl1

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A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Main 'Modeling tissue-specific splicing' paragraph 4 '(mean Pearson r = 0.26)'

Source checking is not independent reproduction. 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-spliceai2-dm1

areas
dna-genomes
contexts
research
method types
supervised_machine_learning
foundation model eligible
false
reported name
SpliceAI2 (myotonic dystrophy)
version
Tissue-specific framework fine-tuned on GSE86356 tibialis anterior RNA-seq
parameters
Four 147-RBP signatures (healthy and low, medium and high disease severity), with inferred free MBNL1 expression 9.17, 6.01, 3.67 and 1.32 log2 TMM CPM (n = 11, 15, 14 and 15)
source locator
Main 'Modeling tissue-specific splicing' paragraph 4; Methods 'MBNL1-depleted myotonic dystrophy'
missing metadata
checkpoint: reason: unreported; note: No released weights named.
provenance note
SpliceAI2 fine-tuned on myotonic dystrophy type 1 muscle RNA-seq (Jaganathan et al. 2026), as evaluated in the SpliceAI2 paper.
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