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.

本项目旨在针对患有罕见未确诊遗传病的个体，开展人类基因组编码区致病变异的检测研究。为此，我们采用下一代测序（next-generation sequencing）技术靶向捕获人类全编码区即全外显子组（whole exome），随后将生成的测序读段（reads）比对至参考基因组，以检测患者DNA中的序列变异。