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MTSplice predicts effects of genetic variants on tissue-specific splicing.
Genome Biol. 22:94 (2021)
We develop the free and open-source model Multi-tissue Splicing (MTSplice) to predict the effects of genetic variants on splicing of cassette exons in 56 human tissues. MTSplice combines MMSplice, which models constitutive regulatory sequences, with a new neural network that models tissue-specific regulatory sequences. MTSplice outperforms MMSplice on predicting tissue-specific variations associated with genetic variants in most tissues of the GTEx dataset, with largest improvements on brain tissues. Furthermore, MTSplice predicts that autism-associated de novo mutations are enriched for variants affecting splicing specifically in the brain. We foresee that MTSplice will aid interpreting variants associated with tissue-specific disorders.
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Publication type
Article: Journal article
Document type
Scientific Article
ISSN (print) / ISBN
1474-760X
e-ISSN
1465-6906
Journal
Genome Biology
Quellenangaben
Volume: 22,
Issue: 1,
Article Number: 94
Publisher
BioMed Central
Publishing Place
Campus, 4 Crinan St, London N1 9xw, England
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Computational Biology (ICB)
Grants
NIH HHS
Scientific High Performance Computing in Bavaria KONWIHR
Scientific High Performance Computing in Bavaria KONWIHR