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

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...

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Detalles Bibliográficos
Autores principales: Wang, Xu, Shen, Xiang, Fang, Fang, Ding, Chang-Hong, Zhang, Hao, Cao, Zhen-Hua, An, Dong-Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333749/
https://www.ncbi.nlm.nih.gov/pubmed/30687093
http://dx.doi.org/10.3389/fphar.2018.01529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333749/
https://www.ncbi.nlm.nih.gov/pubmed/30687093
http://dx.doi.org/10.3389/fphar.2018.01529

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