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

• Үндсэн зохиолчид: Xu Wang (Зохиогч), Xiang Shen (Зохиогч), Fang Fang (Зохиогч), Chang-Hong Ding (Зохиогч), Hao Zhang (Зохиогч), Zhen-Hua Cao (Зохиогч), Dong-Yan An (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...