Ontology highlight
ABSTRACT:
SUBMITTER: Cheng J
PROVIDER: S-EPMC8011109 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature

Cheng Jun J Çelik Muhammed Hasan MH Kundaje Anshul A Gagneur Julien J
Genome biology 20210331 1
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 tis ...[more]