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3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints
MOTIVATION: Improvements in next-generation sequencing have enabled genome-based diagnosis for patients with genetic diseases. However, accurate interpretation of human variants requires knowledge from a number of clinical cases. In addition, manual analysis of each variant detected in a patient...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665754/ https://www.ncbi.nlm.nih.gov/pubmed/34270679 http://dx.doi.org/10.1093/bioinformatics/btab529 |