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

• Autori principali: Xu Wang (Autore), Xiang Shen (Autore), Fang Fang (Autore), Chang-Hong Ding (Autore), Hao Zhang (Autore), Zhen-Hua Cao (Autore), Dong-Yan An (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Soggetti: article
• Accesso 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...