Integrated whole genome and gene expression analysis as a tool for the detection of variants located in non-coding sequences, causative for neurodevelopmental diseases

The aim of the project is to discover genetic factors underlying neurodevelopmental disorders (ND) within non-coding genomic regions. The hypothesis of the project is based on the fact that the RNA-seq results will indicate the impaired biological pathway leading to the onset of the disease. This can shed a new light on previously obtained whole-genome sequencing (WGS) data and give a clue for the area of search for the causative variants. The results will provide more information on the mechanism underlying pathogenesis of the neurodevelopmental diseases, and will also contribute to create an algorithm for increasing the efficiency of new causative genes and pathogenic variants detection.