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

• 主要な著者: Xu Wang (著者), Xiang Shen (著者), Fang Fang (著者), Chang-Hong Ding (著者), Hao Zhang (著者), Zhen-Hua Cao (著者), Dong-Yan An (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...