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

• मुख्य लेखकों: Xu Wang (लेखक), Xiang Shen (लेखक), Fang Fang (लेखक), Chang-Hong Ding (लेखक), Hao Zhang (लेखक), Zhen-Hua Cao (लेखक), Dong-Yan An (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...