A new approach (EDIZ) for big data variant prioritization

In this study, we aimed to upgrade our previous in-house variant prioritization method to analyse WES data without using in silico methods. By this method, the annotated da ta have been decreased by means of 52.3 times. Therefore, we both established a successful WES workflow for increasing the diagnostic rate of patients with reducing the raw data. Recently, we are also building a web-based workflow to help the users from all over the world.

Source: Network Modeling Analysis in Health Informatics and Bioinformatics - August 9, 2019 Category: Bioinformatics Source Type: research