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

Intolerance to variation is a strong indicator of disease relevance for coding regions of the human genome. Here, the authors present JARVIS, a deep learning method integrating intolerance to variation in non-coding regions and sequence-specific annotations to infer non-coding variant pathogenicity.

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Autores principales: Dimitrios Vitsios, Ryan S. Dhindsa, Lawrence Middleton, Ayal B. Gussow, Slavé Petrovski
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/4a6d20095a0b4f49bb6cbd6b031c99c8
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