SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1479-7364

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation ; volume:17 ; number:1 ; day:10 ; month:2 ; year:2023 ; pages:1-16 ; date:12.2023
Human genomics ; 17, Heft 1 (10.2.2023), 1-16, 12.2023

Creator: Sainte Agathe, Jean-Madeleine de
Filser, Mathilde
Isidor, Bertrand
Besnard, Thomas
Gueguen, Paul
Perrin, Aurélien
Goethem, Charles Van
Verebi, Camille
Masingue, Marion
Rendu, John
Cossée, Mireille
Bergougnoux, Anne
Frobert, Laurent
Buratti, Julien
Lejeune, Élodie
Guern, Éric Le
Pasquier, Florence
Clot, Fabienne
Kalatzis, Vasiliki
Roux, Anne-Françoise
Cogné, Benjamin
Baux, David

Contributor: SpringerLink (Online service)

DOI: 10.1186/s40246-023-00451-1

URN: urn:nbn:de:101:1-2023041421000652004728

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:57 AM CEST

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Associated

Sainte Agathe, Jean-Madeleine de
Filser, Mathilde
Isidor, Bertrand
Besnard, Thomas
Gueguen, Paul
Perrin, Aurélien
Goethem, Charles Van
Verebi, Camille
Masingue, Marion
Rendu, John
Cossée, Mireille
Bergougnoux, Anne
Frobert, Laurent
Buratti, Julien
Lejeune, Élodie
Guern, Éric Le
Pasquier, Florence
Clot, Fabienne
Kalatzis, Vasiliki
Roux, Anne-Françoise
Cogné, Benjamin
Baux, David
SpringerLink (Online service)

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Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

SpliceTransformer predicts tissue-specific splicing linked to human diseases

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Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells

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Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Transformers significantly improve splice site prediction

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

An intron 9 containing splice variant of PAX2

Cross-kingdom patterns of alternative splicing and splice recognition

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

SpliceTransformer predicts tissue-specific splicing linked to human diseases

Publisher Correction: Transformers significantly improve splice site prediction

EnsembleSplice: ensemble deep learning model for splice site prediction

Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells

SimSpliceEvol: alternative splicing-aware simulation of biological sequence evolution

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Transformers significantly improve splice site prediction

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

An intron 9 containing splice variant of PAX2

Cross-kingdom patterns of alternative splicing and splice recognition

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

SpliceTransformer predicts tissue-specific splicing linked to human diseases

Publisher Correction: Transformers significantly improve splice site prediction

EnsembleSplice: ensemble deep learning model for splice site prediction

Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells

SimSpliceEvol: alternative splicing-aware simulation of biological sequence evolution

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

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Other Objects (12)

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Transformers significantly improve splice site prediction

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

An intron 9 containing splice variant of PAX2

Cross-kingdom patterns of alternative splicing and splice recognition

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

SpliceTransformer predicts tissue-specific splicing linked to human diseases

Publisher Correction: Transformers significantly improve splice site prediction

EnsembleSplice: ensemble deep learning model for splice site prediction

Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells

SimSpliceEvol: alternative splicing-aware simulation of biological sequence evolution

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Transformers significantly improve splice site prediction

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

An intron 9 containing splice variant of PAX2

Cross-kingdom patterns of alternative splicing and splice recognition

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

SpliceTransformer predicts tissue-specific splicing linked to human diseases

Publisher Correction: Transformers significantly improve splice site prediction

EnsembleSplice: ensemble deep learning model for splice site prediction

Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells

SimSpliceEvol: alternative splicing-aware simulation of biological sequence evolution

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Transformers significantly improve splice site prediction

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

An intron 9 containing splice variant of PAX2

Cross-kingdom patterns of alternative splicing and splice recognition

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

SpliceTransformer predicts tissue-specific splicing linked to human diseases

Publisher Correction: Transformers significantly improve splice site prediction

EnsembleSplice: ensemble deep learning model for splice site prediction

Androgen receptor and its splice variant, AR-V7, differentially induce mRNA splicing in prostate cancer cells

SimSpliceEvol: alternative splicing-aware simulation of biological sequence evolution

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