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

• Κύριοι συγγραφείς: Xu Wang (Συγγραφέας), Xiang Shen (Συγγραφέας), Fang Fang (Συγγραφέας), Chang-Hong Ding (Συγγραφέας), Hao Zhang (Συγγραφέας), Zhen-Hua Cao (Συγγραφέας), Dong-Yan An (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...