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Article

MTSplice predicts effects of genetic variants on tissue-specific splicing.

Genome biology - 31 Mar 2021

Cheng Jun, Çelik Muhammed Hasan, Kundaje Anshul, Gagneur Julien

Abstract excerpt

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...

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PMID: 33789710
DOI: 10.1186/s13059-021-02273-7
PMCID: PMC8011109

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