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

• Những tác giả chính: Xu Wang (Tác giả), Xiang Shen (Tác giả), Fang Fang (Tác giả), Chang-Hong Ding (Tác giả), Hao Zhang (Tác giả), Zhen-Hua Cao (Tác giả), Dong-Yan An (Tác giả)
• Định dạng: Sách
• Được phát hành: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: 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...