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Genomics & Bioinformatics · Variant Interpretation

SpliceAI

By Illumina →

Deep-learning prediction of splice-altering variants

Deep-learning prediction of splice-altering variants. Code and pretrained model terms differ; predictions alone do not determine pathogenicity.

Deep-learning prediction of splice-altering variantsInput: Sequence variants and compatible reference genomeOutput: Predicted splice-site changes and scores
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Overview

Deep-learning prediction of splice-altering variants. Code and pretrained model terms differ; predictions alone do not determine pathogenicity.

Information checked against an official source; not a hands-on test. Source · Last reviewed: 16/09/2026, 17:33:40

Key Features

  • Deep-learning prediction of splice-altering variants
  • Input: Sequence variants and compatible reference genome
  • Output: Predicted splice-site changes and scores

Academic Context & Research Evidence

Biological & Workflow Fit

Compute & Hardware
Consult linked installation guidance; workload dependent
Licensing & Academic Use
Review the linked release, model weights, datasets and service terms separately
Documented Evidence
Project or provider documentation; no local performance benchmark

Cite this Tool

Use this citation format when referencing SpliceAI in scientific publications and benchmark papers.

@software{spliceai_2026,
  title = {{SpliceAI}},
  author = {{Illumina}},
  year = {2026},
  url = {https://github.com/Illumina/SpliceAI},
  note = {Indexed on aibioatlas - AI for Biology and Drug Discovery}
}

Peer-Reviewed Literature & Preprints

Live scientific citations streamed from Europe PMC and PubMed for SpliceAI.

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Technical / Product Information

Missing values mean the catalog has no recorded information. They do not mean a feature is absent.

Entry typeResearch software / model
Access modePublic code / project terms
AI roleScientific machine learning
Input dataSequence variants and compatible reference genome
Output dataPredicted splice-site changes and scores
Licence conditionsReview the linked release, model weights, datasets and service terms separately
Commercial eligibilityNot independently confirmed
Compute requirementsConsult linked installation guidance; workload dependent
ValidationEvaluate on representative data; no clinical suitability established
TypeNot recorded
Intended useBiological and pharmaceutical research
CompatibilityNot recorded
LimitationsCode and pretrained model terms differ; predictions alone do not determine pathogenicity.
Evidence levelProject or provider documentation; no local performance benchmark
AvailabilitySee project access and maintenance status
Price / accessSee project terms; compute costs may apply

Research fit & compatibility

No software–hardware integration has been verified for this entry yet. Explore documented research workflows.

Gallery & resources

No licensed product photograph recorded for SpliceAI yet. Visit the official resource below for manufacturer imagery.

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FAQ

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Peer Reviews & Community Ratings

Feedback from researchers and computational biologists evaluating SpliceAI.

5.0
★★★★★Based on 0 researcher evaluations
Biological Accuracy
4.8/5
Ease of Installation
4.3/5
Documentation & Code
4.6/5