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

• المؤلفون الرئيسيون: Xu Wang (مؤلف), Xiang Shen (مؤلف), Fang Fang (مؤلف), Chang-Hong Ding (مؤلف), Hao Zhang (مؤلف), Zhen-Hua Cao (مؤلف), Dong-Yan An (مؤلف)
• التنسيق: كتاب
• منشور في: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...