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...

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Detalles Bibliográficos
Autores principales: Li, Qigang, Zhao, Keyan, Bustamante, Carlos D., Ma, Xin, Wong, Wing H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
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

Internet

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

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