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

• Auteurs principaux: Xu Wang (Auteur), Xiang Shen (Auteur), Fang Fang (Auteur), Chang-Hong Ding (Auteur), Hao Zhang (Auteur), Zhen-Hua Cao (Auteur), Dong-Yan An (Auteur)
• Format: Livre
• Publié: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...