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Article

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.

Nature communications - 8 Mar 2021

Vitsios Dimitrios, Dhindsa Ryan S, Middleton Lawrence, Gussow Ayal B, Petrovski Slavé

Abstract excerpt

Elucidating functionality in non-coding regions is a key challenge in human genomics. It has been shown that intolerance to variation of coding and proximal non-coding sequence is a strong predictor of human disease relevance. Here, we integrate intolerance to variation, functional genomic annotations and primary genomic sequence to build JARVIS: a comprehensive deep learning model to prioritize non-coding...

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Identifiers

PMID: 33686085
DOI: 10.1038/s41467-021-21790-4
PMCID: PMC7940646

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