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

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 annotatio...

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Publicat a:Nat Commun
Autors principals: Vitsios, Dimitrios, Dhindsa, Ryan S., Middleton, Lawrence, Gussow, Ayal B., Petrovski, Slavé
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940646/
https://ncbi.nlm.nih.gov/pubmed/33686085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-21790-4
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