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

• প্রধান লেখক: Xu Wang (লেখক), Xiang Shen (লেখক), Fang Fang (লেখক), Chang-Hong Ding (লেখক), Hao Zhang (লেখক), Zhen-Hua Cao (লেখক), Dong-Yan An (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...