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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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Detalles Bibliográficos
Autores principales: Vitsios, Dimitrios, Dhindsa, Ryan S., Middleton, Lawrence, Gussow, Ayal B., Petrovski, Slavé
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940646/
https://www.ncbi.nlm.nih.gov/pubmed/33686085
http://dx.doi.org/10.1038/s41467-021-21790-4