Annotating pathogenic non-coding variants in genic regions
While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding geneti...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2017-08-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-017-00141-2 |