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Annotating high-impact 5′untranslated region variants with the UTRannotator
SUMMARY: Current tools to annotate the predicted effect of genetic variants are heavily biased towards protein-coding sequence. Variants outside of these regions may have a large impact on protein expression and/or structure and can lead to disease, but this effect can be challenging to predict. Con...
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| Publicado no: | Bioinformatics |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8150139/ https://ncbi.nlm.nih.gov/pubmed/32926138 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa783 |
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