Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease

• Главные авторы: Xu Wang (Автор), Xiang Shen (Автор), Fang Fang (Автор), Chang-Hong Ding (Автор), Hao Zhang (Автор), Zhen-Hua Cao (Автор), Dong-Yan An (Автор)
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• Опубликовано: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Предметы: article
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Objective: Whole Exome Sequencing (WES) is an effective diagnostic method for complicated and multi-system involved rare diseases. However, annotation and analysis of the WES result, especially for single case analysis still remain a challenge. Here, we introduce a method called phenotype-driven des...