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

• Hauptverfasser: Xu Wang (Verfasst von), Xiang Shen (Verfasst von), Fang Fang (Verfasst von), Chang-Hong Ding (Verfasst von), Hao Zhang (Verfasst von), Zhen-Hua Cao (Verfasst von), Dong-Yan An (Verfasst von)
• Format: Buch
• Veröffentlicht: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: 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...