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Discovering disease genetic variation impacting gene expression in 103 brain tissues with the Brain Ontology Expression (BRONTE) graph neural network model

2025-05-14

Abstract excerpt

Uncovering genes dysregulated in neuropsychiatric diseases promises to put forward therapeutic targets. By linking disease risk variants to tissue-specific gene regulation, the Genotype-Tissue Expression (GTEx) project has enabled discovery of disease genes and the brain tissues where these pathogenic effects occur. But, GTEx requires huge investment in obtaining human brain tissues, limiting the sample size and t...

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Literature Corpus work
6ee7f9f4-7ac8-59bd-b083-fcafbc1b8b01
DOI
10.1101/2025.05.08.652857
Open publication

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Discovering disease genetic variation impacting gene expression in 103 brain tissues with the Brain Ontology Expression (BRONTE) graph neural network modelDOI 10.1101/2025.05.08.652857
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