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

• Autores principales: Xu Wang (Autor), Xiang Shen (Autor), Fang Fang (Autor), Chang-Hong Ding (Autor), Hao Zhang (Autor), Zhen-Hua Cao (Autor), Dong-Yan An (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...