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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-994X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores ; volume:13 ; number:1 ; day:22 ; month:2 ; year:2021 ; pages:1-12 ; date:12.2021
Genome medicine ; 13, Heft 1 (22.2.2021), 1-12, 12.2021

Creator: Rentzsch, Philipp
Schubach, Max
Shendure, Jay
Kircher, Martin

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13073-021-00835-9

URN: urn:nbn:de:101:1-2021041009311309001586

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

Last update: 14.08.2025, 10:47 AM CEST

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Rentzsch, Philipp
Schubach, Max
Shendure, Jay
Kircher, Martin
SpringerLink (Online service)

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

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Other Objects (12)

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

An intron 9 containing splice variant of PAX2

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

EnsembleSplice: ensemble deep learning model for splice site prediction

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Analysis of CCR2 splice variant expression patterns and functional properties

Reversible mislocalization of a disease-associated MRE11 splice variant product

SpliceFinder: ab initio prediction of splice sites using convolutional neural network

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

Survivin 2α: a novel Survivin splice variant expressed in human malignancies

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

An intron 9 containing splice variant of PAX2

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

EnsembleSplice: ensemble deep learning model for splice site prediction

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Analysis of CCR2 splice variant expression patterns and functional properties

Reversible mislocalization of a disease-associated MRE11 splice variant product

SpliceFinder: ab initio prediction of splice sites using convolutional neural network

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

Survivin 2α: a novel Survivin splice variant expressed in human malignancies

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

An intron 9 containing splice variant of PAX2

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

EnsembleSplice: ensemble deep learning model for splice site prediction

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Analysis of CCR2 splice variant expression patterns and functional properties

Reversible mislocalization of a disease-associated MRE11 splice variant product

SpliceFinder: ab initio prediction of splice sites using convolutional neural network

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

Survivin 2α: a novel Survivin splice variant expressed in human malignancies

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