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Analysis of whole-exome sequencing (WES) data to identify disease-causing variants
WES allows for the rapid screening of all coding variants present in a genome, creating exciting
possibilities for clinical research, especially for the diagnosis of rare and complex diseases. The sheer
amount of data generated however, necessiates extenisve downstream analysis.
The aim of this project will be to detect potential disease-causing variants related to intelectual disability
in a data set of 67 patients.