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Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis
PURPOSE: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision, and noise in disease phenotype descriptions and...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752318/ https://www.ncbi.nlm.nih.gov/pubmed/30675030 http://dx.doi.org/10.1038/s41436-019-0439-8 |