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.
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-03-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-021-21790-4 |
| Summary: | 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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| ISSN: | 2041-1723 |