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

• Päätekijät: Xu Wang (Tekijä), Xiang Shen (Tekijä), Fang Fang (Tekijä), Chang-Hong Ding (Tekijä), Hao Zhang (Tekijä), Zhen-Hua Cao (Tekijä), Dong-Yan An (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...