PRJNA708138
Identification of genetic defects in families segregating rare inherited diseases using next generation genomic tools
This project is aimed at the detection of pathogenic variants in the coding part of the human genome in individuals with rare undiagnosed genetic diseases. For this purpose, we use a next-generation sequencing approach to target the complete coding part (whole exome) of the human genome. The generated reads are aligned to the reference genome to detect changes in the patient DNA.