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A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While predictive algorithms to assist in classifying pathogenicity can potentially be highly valuable, the utility of these tools is often unclear, as it depends on carefully selected training and validation c...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10517338/ https://www.ncbi.nlm.nih.gov/pubmed/37745687 http://dx.doi.org/10.3389/fmolb.2023.1257550 |