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

• Asıl Yazarlar: Xu Wang (Yazar), Xiang Shen (Yazar), Fang Fang (Yazar), Chang-Hong Ding (Yazar), Hao Zhang (Yazar), Zhen-Hua Cao (Yazar), Dong-Yan An (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...