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

• Egile Nagusiak: Xu Wang (Egilea), Xiang Shen (Egilea), Fang Fang (Egilea), Chang-Hong Ding (Egilea), Hao Zhang (Egilea), Zhen-Hua Cao (Egilea), Dong-Yan An (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...