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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...

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Опубликовано в: :Front Genet
Главные авторы: Jia, Jinmeng, Wang, Ruiyuan, An, Zhongxin, Guo, Yongli, Ni, Xi, Shi, Tieliu
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6288202/
https://ncbi.nlm.nih.gov/pubmed/30564269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00587
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