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RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of diseases, paving the way for new disease diagnostics. However, due to the lack of clinical samples and records, the molecular cause for rare diseases is always hard to identify, significantly limiting the...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288202/ https://www.ncbi.nlm.nih.gov/pubmed/30564269 http://dx.doi.org/10.3389/fgene.2018.00587 |