Evidence map›Paper›PMID 39896553›Full record

ArticlebioRxiv : the preprint server for biology2025

Generative modeling for RNA splicing predictions and design.

Di Wu, Natalie Maus, Anupama Jha, Kevin Yang, Benjamin D Wales-McGrath, San Jewell, Anna Tangiyan, Peter Choi, Jacob R Gardner, Yoseph Barash

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Di WuDepartment of Computer and Information Science, School of Engineering, University of Pennsylvania.
Natalie MausDepartment of Computer and Information Science, School of Engineering, University of Pennsylvania.
Anupama JhaDepartment of Genome Sciences, University of Washington.ORCID 0000-0003-3029-2086
Kevin YangDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania.
Benjamin D Wales-McGrathDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania.
San JewellDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania.
Anna TangiyanDivision of Cancer Pathobiology, The Children's Hospital of Philadelphia.
Peter ChoiDepartment of Pathology & Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania.ORCID 0000-0002-2820-3032
Jacob R GardnerDepartment of Computer and Information Science, School of Engineering, University of Pennsylvania.
Yoseph BarashDepartment of Computer and Information Science, School of Engineering, University of Pennsylvania.ORCID 0000-0003-3005-5048

Funding

Identifying regulatory uORFs as a targetable axis for hereditary diseaseR01GM147739 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI BARASH, YOSEPH, HAND, NICHOLAS JOSEPH · 2022 to 2025
$1.7M
Methods for improving clinical diagnostic by detection, prediction, interpretation and prioritization of aberrant transcriptome variationsR01LM013437 · NLM · UNIVERSITY OF PENNSYLVANIA · PI BARASH, YOSEPH · 2020 to 2023
$1.4M
NIGMS NIH HHS R01 GM147739NLM NIH HHS R01 LM013437
6 · The paper itself

Abstract

Alternative splicing (AS) of pre-mRNA plays a crucial role in tissue-specific gene regulation, with disease implications due to splicing defects. Predicting and manipulating AS can therefore uncover new regulatory mechanisms and aid in therapeutics design. We introduce TrASPr+BOS, a generative AI model with Bayesian Optimization for predicting and designing RNA for tissue-specific splicing outcomes. TrASPr is a multi-transformer model that can handle different types of AS events and generalize to unseen cellular conditions. It then serves as an oracle, generating labeled data to train a Bayesian Optimization for Splicing (BOS) algorithm to design RNA for condition-specific splicing outcomes. We show TrASPr+BOS outperforms existing methods, enhancing tissue-specific AUPRC by up to 2.4 fold and capturing tissue-specific regulatory elements. We validate hundreds of predicted novel tissue-specific splicing variations and confirm new regulatory elements using dCas13. We envision TrASPr+BOS as a light yet accurate method researchers can probe or adopt for specific tasks.

Identifiers

PMID39896553
PMCPMC11785043

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.