ReviewHuman genomics2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Review in Human genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 2 of them syntheses that pooled it.
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Who cites it
133 citing papers in PubMed, 2 syntheses or guidelines pooled it.
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- Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project.European journal of human genetics : EJHG · 2026Article
- TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.Prenatal diagnosis · 2026Review
- Elevated Hemoglobin AJournal of clinical laboratory analysis · 2026Article
- Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing.European journal of human genetics : EJHG · 2026Article
- Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.European journal of human genetics : EJHG · 2026Article
- Revisiting Algorithms, Tools, and Applications for Sequence and Phylogenetic Analyses in the NGS-Based Omics Era.Biochemical genetics · 2026Review
- Large phenotypic variability with severe respiratory involvement inJournal of neuromuscular diseases · 2026Article
- CATVariant: a web server for integrated protein variant interpretation across sequence, structure, population, and clinical evidence.Nucleic acids research · 2026Article
- Advances and challenges of splicing prediction with AI.Nature genetics · 2026Review
- Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.Epilepsia · 2026Article
- Large-Scale Analyses of GWAS Identify Five Key Pleiotropic Genes Involved in Complex Diseases.Genes · 2026Article
- First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an IrishGenes · 2026Article
- Adenine base editor for knockout of proteins: A practical guide from design to analysis with updated MultiEditRbatch.Molecular therapy. Nucleic acids · 2026Article
- Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.Croatian medical journal · 2026Article
- A genome-wide association study of young onset Parkinson's disease in European ancestry.medRxiv : the preprint server for health sciences · 2026Article
- Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.The Journal of pathology · 2026Article
73 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) although the numerical values are very convenient for batch filtering, their precise interpretation can be difficult, (2) the outputs are delta scores which can sometimes mask a severe consequence, and (3) complex delins are most often not handled. We present here SpliceAI-visual, a free online tool based on the SpliceAI algorithm, and show how it complements the traditional SpliceAI analysis. First, SpliceAI-visual manipulates raw scores and not delta scores, as the latter can be misleading in certain circumstances. Second, the outcome of SpliceAI-visual is user-friendly thanks to the graphical presentation. Third, SpliceAI-visual is currently one of the only SpliceAI-derived implementations able to annotate complex variants (e.g., complex delins). We report here the benefits of using SpliceAI-visual and demonstrate its relevance in the assessment/modulation of the PVS1 classification criteria. We also show how SpliceAI-visual can elucidate several complex splicing defects taken from the literature but also from unpublished cases. SpliceAI-visual is available as a Google Colab notebook and has also been fully integrated in a free online variant interpretation tool, MobiDetails ( https://mobidetails.iurc.montp.inserm.fr/MD ).
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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.