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

• Main Authors: Xu Wang (Author), Xiang Shen (Author), Fang Fang (Author), Chang-Hong Ding (Author), Hao Zhang (Author), Zhen-Hua Cao (Author), Dong-Yan An (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: 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...