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

ABSTRACT: 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 designing "virtual panel" to simplify the procedure and assess the diagnostic rate of this method. Methods: WES was performed in samples of 30 patients, core phenotypes of probands were then extracted and inputted into an in-house software, "Mingjian" to calculate and generate associated gene list of a virtual panel. Mingjian is a self-updating genetic disease computer supportive diagnostic system that based on the databases of HPO, OMIM, HGMD. The virtual panel that generated by Ming

SUBMITTER: Wang X 

PROVIDER: S-EPMC6333749 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature