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DeepPVP: phenotype-based prioritization of causative variants using deep learning
BACKGROUND: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathogenicity prediction is combined with a semantic similarity...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364462/ https://www.ncbi.nlm.nih.gov/pubmed/30727941 http://dx.doi.org/10.1186/s12859-019-2633-8 |