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POSTRE: a tool to predict the pathological effects of human structural variants
Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can cause human disease by altering the function of non-coding regu...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10201441/ https://www.ncbi.nlm.nih.gov/pubmed/36999617 http://dx.doi.org/10.1093/nar/gkad225 |