Evidence map›Paper›PMID 41165728›Full record

ArticleeLife2025

OpenSpliceAI provides an efficient modular implementation of SpliceAI enabling easy retraining across nonhuman species.

Kuan-Hao Chao, Alan Mao, Anqi Liu, Steven L Salzberg, Mihaela Pertea

Abstract read
In one paragraph

Article in eLife, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Improving splice site usage prediction with SPLAIRE.bioRxiv : the preprint server for biology · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Kuan-Hao Chao *Department of Computer Science, Johns Hopkins University, Baltimore, United States.ORCID https://orcid.org/0000-0003-0099-0692
Alan Mao *Department of Computer Science, Johns Hopkins University, Baltimore, United States.ORCID https://orcid.org/0000-0003-2381-0607
Anqi LiuDepartment of Computer Science, Johns Hopkins University, Baltimore, United States.
Steven L SalzbergDepartment of Computer Science, Johns Hopkins University, Baltimore, United States.ORCID https://orcid.org/0000-0002-8859-7432
Mihaela PerteaDepartment of Computer Science, Johns Hopkins University, Baltimore, United States.ORCID https://orcid.org/0000-0003-0762-8637

Funding

Computational Methods for Genome Assembly, Transcript Assembly, and Variant DiscoveryR01HG006677 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI SALZBERG, STEVEN L. · 2011 to 2025
$10.7M
Computational Methods for Microbial and Microbiome Sequence AnalysisR35GM130151 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI Steven L. Salzberg · 2019 to 2026
$2.9M
Exploring new approaches for enhanced human gene annotationR35GM156470 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI Mihaela Pertea · 2025 to 2026
$776k
National Science Foundation DBI 2412449National Science Foundation OAC 1920103NHGRI NIH HHS R01 HG006677NIGMS NIH HHS R35 GM130151NIGMS NIH HHS R35 GM156470U.S. National Institute of Health R01-HG006677U.S. National Institute of Health R35-GM130151U.S. National Institute of Health R35-GM156470
6 · The paper itself

Abstract

The SpliceAI deep learning system is currently one of the most accurate methods for identifying splicing signals directly from DNA sequences. However, its utility is limited by its reliance on older software frameworks and human-centric training data. Here, we introduce OpenSpliceAI, a trainable, open-source version of SpliceAI implemented in PyTorch to address these challenges. OpenSpliceAI supports both training from scratch and transfer learning, enabling seamless retraining on species-specific datasets and mitigating human-centric biases. Our experiments show that it achieves faster processing speeds and lower memory usage than the original SpliceAI code, allowing large-scale analyses of extensive genomic regions on a single GPU. Additionally, OpenSpliceAI's flexible architecture makes for easier integration with established machine learning ecosystems, simplifying the development of custom splicing models for different species and applications. We demonstrate that OpenSpliceAI's output is highly concordant with SpliceAI. In silico mutagenesis analyses confirm that both models rely on similar sequence features, and calibration experiments demonstrate similar score probability estimates.

Indexed as

Computational BiologyDeep LearningRNA SplicingSequence Analysis, DNASoftwareAnimalsHumansarabidopsis thalianaA. thalianacomputational biologydeep learninghoneybeehumanmousePyTorchSpliceAIsplice junctionsSplice site predictionsystems biologyTransfer learningzebrafish

Identifiers

PMID41165728
PMCPMC12575001

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.